### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITGA2B) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "ITGA2B" "integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)" "17" "q21.32" "unknown" "NC_000017.10" "UD_132118985656" "" "http://www.LOVD.nl/ITGA2B" "" "1" "6138" "3674" "607759" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ITGA2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-08 19:39:25" "00006" "2025-12-16 16:39:42" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010183" "ITGA2B" "integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)" "001" "NM_000419.3" "" "NP_000410.2" "" "" "" "-32" "3302" "3120" "42466873" "42449550" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01576" "BDPLT16" "bleeding disorder, platelet, type 16" "AD" "187800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-07-01 11:21:33" "07095" "GT" "thrombasthenia, Glanzmann\'s" "" "" "" "" "" "00006" "2024-07-01 11:24:10" "00006" "2025-12-12 09:59:13" "07212" "FMAIT2" "fetomaternal alloimmune thrombocytopenia, type 2" "" "621266" "" "" "" "00006" "2025-12-08 19:41:19" "00006" "2025-12-13 19:00:12" "07213" "FMAIT" "fetomaternal alloimmune thrombocytopenia" "" "" "" "" "" "00006" "2025-12-10 15:54:10" "00006" "2025-12-13 18:58:46" "07214" "GT1" "thrombasthenia, Glanzmann, type1" "AR" "273800" "" "" "" "00006" "2025-12-12 10:00:45" "" "" "07215" "BDPLT" "bleeding disorder, platelet type" "" "" "" "" "" "00006" "2025-12-13 08:58:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "ITGA2B" "01576" "ITGA2B" "07095" "ITGA2B" "07212" "ITGA2B" "07213" "ITGA2B" "07214" ## Individuals ## Do not remove or alter this header ## ## Count = 179 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00470775" "" "" "" "1" "" "00006" "{PMID:Newman 1991:2014236}" "family" "" "" "Israel" "" "0" "" "" "Arab" "family" "00470776" "" "" "" "1" "" "00006" "{PMID:Newman 1991:2014236}" "family" "" "" "Israel" "" "0" "" "" "Arab" "family" "00470777" "" "" "" "1" "" "00006" "{PMID:Newman 1991:2014236}" "family" "" "" "Israel" "" "0" "" "" "Arab" "family" "00470783" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT02" "00470784" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT06" "00470785" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT12" "00470786" "" "" "" "2" "" "00006" "{PMID:Peretz 2006:16463284}" "family, 2 affected sibs" "F" "" "India" "" "0" "" "" "" "GT14" "00470787" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT22" "00470788" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT24" "00470789" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT26" "00470790" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT27" "00470791" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT28" "00470792" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT29" "00470793" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT38" "00470794" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT41" "00470795" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT43" "00470828" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "PV" "00470829" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "PF" "00470830" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "LF" "00470831" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "DRP" "00470832" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "FF" "00470833" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "MR" "00470834" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "GM" "00470835" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "PL" "00470836" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "FN" "00470837" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "BM" "00470838" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "LRI" "00470839" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "VA" "00470840" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "ME" "00470841" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "CT" "00470842" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "ER" "00470843" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "CE" "00470844" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "ZM" "00470850" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "China" "" "0" "" "" "" "CabGT-1" "00470851" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-2" "00470852" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-3" "00470853" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "carrier" "" "" "France" "" "0" "" "" "" "CabGT-4" "00470854" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-5" "00470855" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-6" "00470856" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-7" "00470857" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-8" "00470858" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "Kuwait" "" "0" "" "" "" "CabGT-9" "00470859" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "Africa-N" "CabGT-10" "00470860" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-11" "00470861" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-12" "00470862" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "Japan" "" "0" "" "" "" "CabGT-13" "00470863" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "Africa-N" "CabGT-14" "00470864" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "carrier" "" "" "France" "" "0" "" "" "" "CabGT-15" "00470865" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "Africa-N" "CabGT-16" "00470866" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "Africa-N" "CabGT-17" "00470867" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-18" "00470877" "" "" "" "1" "" "00006" "{PMID:Vinciguerra 1996:8904900}, {PMID:Negrier 1998:9450787}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Tunisia" "" "0" "" "" "" "patient" "00470879" "" "" "" "2" "" "00006" "{PMID:Vinciguerra 1995:8571304}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier father" "M" "" "France" "" "0" "" "" "" "Fam2Pat2/3" "00470881" "" "" "" "1" "" "00006" "{PMID:Nurden 2004:15099289}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Canada" "" "0" "" "" "Philippines" "JV" "00470882" "" "" "" "1" "" "00006" "{PMID:Basani 2000:10607701}" "family" "F" "" "United States" "" "0" "" "" "Mennonite" "Fam1PatLW" "00470883" "" "" "" "1" "" "00006" "{PMID:Basani 2000:10607701}" "family" "M" "" "United States" "" "0" "" "" "Mennonite" "Fam2PatGW" "00470884" "" "" "" "1" "" "00006" "{PMID:Basani 2000:10607701}" "family" "M" "" "Netherlands" "" "0" "" "" "" "Fam3PatJF" "00470885" "" "" "" "1" "" "00006" "{PMID:Basani 2000:10607701}" "family" "M" "" "China" "" "0" "" "" "" "Chinese-14" "00470886" "" "" "" "1" "" "00006" "{PMID:Tadokoro 1998:9763559}" "" "F" "no" "Japan" "" "0" "" "" "" "MT" "00470887" "" "" "" "1" "" "00006" "{PMID:Tadokoro 1998:9763559}" "" "F" "no" "Japan" "" "0" "" "" "" "MS" "00470894" "" "" "" "1" "" "00006" "{PMID:Mitchell 2003:12424194}" "2-generation family, 1 affected, unaffected parents" "" "no" "Canada;Puerto Rico" "" "0" "" "" "" "PatM" "00470895" "" "" "" "2" "" "00006" "{PMID:Mitchell 2003:12424194}" "2-generation family, 1 affected son/father, unaffected heterozygous carrier mother" "M" "" "Italy" "" "0" "" "" "" "PatC" "00470896" "" "" "00470895" "1" "" "00006" "{PMID:Mitchell 2003:12424194}" "father" "M" "" "Italy" "" "0" "" "" "" "PatC-father" "00470897" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Manchon 1999:9920835}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Spain" "" "0" "" "" "" "patient" "00470898" "" "" "" "1" "" "00006" "{PMID:Ruan 1998:9734640}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Switzerland" "" "0" "" "" "" "patient" "00470899" "" "" "" "2" "" "00006" "{PMID:Scott 1998:9798966}" "2-generation family, 2 affected sibs" "" "" "United States" "" "0" "" "" "Hispanic" "family" "00470905" "" "" "" "1" "" "00006" "{PMID:Jayo 2010:20081061}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Spain" "" "0" "" "" "" "patient" "00470913" "" "" "" "1" "" "00006" "{PMID:Peterson 2010:19821948}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "" "" "United States" "" "0" "" "" "" "Pat2(Kno)" "00470924" "" "" "" "1" "" "00006" "{PMID:Noris 1995:7620155}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "F" "" "Italy" "" "0" "" "" "" "patient" "00470925" "" "" "" "1" "" "00006" "{PMID:Poles 2013:23305224}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "" "" "Ireland" "" "0" "" "" "" "patient" "00470926" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470927" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470928" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470940" "" "" "" "1" "" "00006" "{PMID:Honda 1998:9739052}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" "" "0" "" "" "" "patient" "00470941" "" "" "" "1" "" "00006" "{PMID:Kosaka 2025:41349512}" "" "" "" "Japan" "" "0" "" "" "" "KO" "00470942" "" "" "" "10" "" "00006" "{PMID:Schlegel 1995:7620188}" "7-generation family, 10 affected (4F, 6M), unaffected heterozygous carrier parents/relatives" "F;M" "" "France" "" "0" "" "" "gypsy-Manouche" "FamI" "00470943" "" "" "" "1" "" "00006" "{PMID:Schlegel 1995:7620188}" "" "" "" "France" "" "0" "" "" "gypsy-Manouche" "FamII" "00470946" "" "" "" "1" "" "00006" "{PMID:Robert 2011:21441448}, {PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "yes" "France" "" "0" "" "" "gypsy" "patient;GT4" "00470950" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "yes" "France" "82y" "0" "" "" "" "GT8" "00470951" "" "" "" "1" "" "00006" "{PMID:Perichaud 1998:9834222}, {PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "Italy" "" "0" "" "" "" "AP;GT10" "00470952" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France;Germany" "" "0" "" "" "" "GT11" "00470954" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France" "" "0" "" "" "" "GT13" "00470955" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France" "" "0" "" "" "" "GT14" "00470956" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France" "" "0" "" "" "" "GT15" "00470957" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "France" "" "0" "" "" "" "GT18" "00470958" "" "" "" "3" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, affected sister/brother/cousin" "F" "yes" "France" "" "0" "" "" "gypsy-Manouche" "GT19" "00470959" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "France" "" "0" "" "" "" "GT20" "00470960" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France" "" "0" "" "" "" "GT21" "00470961" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "" "M" "no" "France" "" "0" "" "" "" "GT22" "00470963" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "" "F" "yes" "France" "" "0" "" "" "gypsy-Manouche" "GT24" "00470964" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "France" "81y" "0" "" "" "" "GT25" "00470965" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "yes" "France" "" "0" "" "" "" "GT26" "00470966" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France" "84y" "0" "" "" "" "GT27" "00470967" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, 2 affected sisters" "M" "yes" "France;Syria" "36" "0" "" "" "" "GT28" "00470969" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "United States" "13" "0" "" "" "" "GT31" "00470971" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "" "United States" "" "0" "" "" "" "GT34" "00470972" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, 2 affected sisters" "F" "no" "United States" "" "0" "" "" "" "GT35a" "00470973" "" "" "" "3" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, 3 affected (2F, M)" "F" "no" "Spain" "" "0" "" "" "" "GT36a" "00470975" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, affected sister/brither" "F" "yes" "Switzerland" "" "0" "" "" "" "GT39a" "00470976" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "" "F" "yes" "Canada;Pakistan" "" "0" "" "" "" "GT40" "00470977" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, affected sister/brither" "F" "no" "Canada;China" "" "0" "" "" "" "GT41a" "00470978" "" "" "" "3" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, 2 affected older siblings" "M" "yes" "Canada;Egypt" "" "0" "" "" "" "GT42" "00470980" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France" "" "0" "" "" "" "GT44" "00470981" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "" "M" "no" "France" "" "0" "" "" "" "GT45" "00470982" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "yes" "France" "" "0" "" "" "" "GT47" "00470984" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France;Spain" "" "0" "" "" "" "GT49" "00470987" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "Argentina;Brazil" "" "0" "" "" "" "GT52" "00470990" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, 2 affected sisters" "F" "no" "Argentina;Brazil" "" "0" "" "" "" "GT55" "00470991" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "Argentina" "" "0" "" "" "Europe" "GT57" "00470992" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "Argentina" "" "0" "" "" "Europe" "GT58" "00470996" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France" "" "0" "" "" "" "GT64" "00470997" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France" "" "0" "" "" "" "GT65" "00470998" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, affected cousins" "F" "yes" "France;Kuwait" "" "0" "" "" "" "GT66" "00470999" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, 2 affected brothers (1 deceased)" "M" "yes" "France" "" "0" "" "" "" "GT67" "00471000" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "" "M" "" "France" "" "0" "" "" "" "GT68" "00471001" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "yes" "France" "" "0" "" "" "" "GT69" "00471003" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "" "France" "" "0" "" "" "" "GT72" "00471005" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, affected relatives" "F" "no" "France" "" "0" "" "" "" "GT74" "00471006" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "France" "" "0" "" "" "Africa" "GT75" "00471007" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "" "M" "" "France" "" "0" "" "" "" "GT76" "00471009" "" "" "00470972" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "sister" "F" "no" "United States" "" "0" "" "" "" "GT35b" "00471010" "" "" "00470973" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "brother" "M" "no" "Spain" "" "0" "" "" "" "GT36b" "00471011" "" "" "00470975" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "brother" "M" "yes" "Switzerland" "" "0" "" "" "" "GT39b" "00471012" "" "" "00470977" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "brother" "M" "no" "Canada;China" "" "0" "" "" "" "GT41b" "00471014" "" "" "00470973" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "sister" "F" "no" "Spain" "" "0" "" "" "" "GT36c" "00471049" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT1" "00471050" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT2" "00471051" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT3" "00471052" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "yes" "China" "" "0" "" "" "Han" "GT4" "00471053" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "yes" "China" "" "0" "" "" "Han" "GT5" "00471054" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT6" "00471055" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "yes" "China" "" "0" "" "" "Han" "GT7" "00471056" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT8" "00471057" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "yes" "China" "" "0" "" "" "Han" "GT9" "00471058" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT10" "00471060" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, two affected sisters" "M" "no" "China" "" "0" "" "" "Han" "GT12" "00471062" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT14" "00471065" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, family history" "M" "no" "China" "" "0" "" "" "Han" "GT16" "00471066" "" "" "" "2" "" "00006" "{PMID:Zhou 2018:29675921}" "family, 2 affected cousins (deceased sister)" "F" "no" "China" "" "0" "" "" "Han" "GT17a" "00471067" "" "" "00471066" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "cousin" "M" "no" "China" "" "0" "" "" "Han" "GT17b" "00471068" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, family history (deceased sister)" "M" "yes" "China" "" "0" "" "" "Han" "GT18" "00471069" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "yes" "China" "" "0" "" "" "Han" "GT19" "00471070" "" "" "" "2" "" "00006" "{PMID:Zhou 2018:29675921}" "family, 2 affected siblings" "M" "yes" "China" "" "0" "" "" "Han" "GT20a" "00471071" "" "" "00471070" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "sister" "F" "yes" "China" "" "0" "" "" "Han" "GT20b" "00471073" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT22" "00471075" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT24" "00471077" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT26" "00471078" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, family history (deceased sister)" "M" "no" "China" "" "0" "" "" "Han" "GT27" "00471080" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT29" "00471081" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT30" "00471082" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT31" "00471083" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT32" "00471085" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT34" "00471086" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT35" "00471088" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT37" "00471089" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT38" "00471090" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, family history" "M" "no" "China" "" "0" "" "" "Han" "GT39" "00471091" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT40" "00471101" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT1" "00471104" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT12" "00471105" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT14" "00471106" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT15" "00471107" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT18" "00471108" "" "" "" "2" "" "00006" "{PMID:Kannan 2009:19691478}" "family, 2 affected" "" "" "India" "" "0" "" "" "" "GT19" "00471110" "" "" "" "2" "" "00006" "{PMID:Kannan 2009:19691478}" "family, 2 affected" "" "" "India" "" "0" "" "" "" "GT20" "00471111" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT23" "00471113" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT26" "00471118" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT32" "00471119" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT37" "00471120" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT38" "00471123" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT45" "00471124" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT51" "00471126" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT54" "00471127" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT58" "00471129" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT62" "00471130" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT67" "00471131" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT68" "00471132" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT69" "00471133" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT70" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 179 "{{individualid}}" "{{diseaseid}}" "00470775" "07095" "00470776" "07095" "00470777" "07095" "00470783" "07095" "00470784" "07095" "00470785" "07095" "00470786" "07095" "00470787" "07095" "00470788" "07095" "00470789" "07095" "00470790" "07095" "00470791" "07095" "00470792" "07095" "00470793" "07095" "00470794" "07095" "00470795" "07095" "00470828" "07095" "00470829" "07095" "00470830" "07095" "00470831" "07095" "00470832" "07095" "00470833" "07095" "00470834" "07095" "00470835" "07095" "00470836" "07095" "00470837" "07095" "00470838" "07095" "00470839" "07095" "00470840" "07095" "00470841" "07095" "00470842" "07095" "00470843" "07095" "00470844" "07095" "00470850" "07095" "00470851" "07095" "00470852" "07095" "00470853" "07095" "00470854" "07095" "00470855" "07095" "00470856" "07095" "00470857" "07095" "00470858" "07095" "00470859" "07095" "00470860" "07095" "00470861" "07095" "00470862" "07095" "00470863" "07095" "00470864" "07095" "00470865" "07095" "00470866" "07095" "00470867" "07095" "00470877" "07095" "00470879" "07095" "00470881" "07095" "00470882" "07095" "00470883" "07095" "00470884" "07095" "00470885" "07095" "00470886" "07095" "00470887" "07095" "00470894" "07095" "00470895" "07095" "00470896" "07095" "00470897" "07095" "00470898" "07095" "00470899" "07095" "00470905" "07215" "00470913" "07213" "00470924" "07212" "00470925" "07212" "00470926" "07212" "00470927" "07212" "00470928" "07212" "00470940" "07095" "00470941" "07214" "00470942" "07095" "00470943" "07095" "00470946" "07095" "00470950" "07095" "00470951" "07095" "00470952" "07095" "00470954" "07095" "00470955" "07095" "00470956" "07095" "00470957" "07095" "00470958" "07095" "00470959" "07095" "00470960" "07095" "00470961" "07095" "00470963" "07095" "00470964" "07095" "00470965" "07095" "00470966" "07095" "00470967" "07095" "00470969" "07095" "00470971" "07095" "00470972" "07095" "00470973" "07095" "00470975" "07095" "00470976" "07095" "00470977" "07095" "00470978" "07095" "00470980" "07095" "00470981" "07095" "00470982" "07095" "00470984" "07095" "00470987" "07095" "00470990" "07095" "00470991" "07095" "00470992" "07095" "00470996" "07095" "00470997" "07095" "00470998" "07095" "00470999" "07095" "00471000" "07095" "00471001" "07095" "00471003" "07095" "00471005" "07095" "00471006" "07095" "00471007" "07095" "00471009" "07095" "00471010" "07095" "00471011" "07095" "00471012" "07095" "00471014" "07095" "00471049" "07095" "00471050" "07095" "00471051" "07095" "00471052" "07095" "00471053" "07095" "00471054" "07095" "00471055" "07095" "00471056" "07095" "00471057" "07095" "00471058" "07095" "00471060" "07095" "00471062" "07095" "00471065" "07095" "00471066" "07095" "00471067" "07095" "00471068" "07095" "00471069" "07095" "00471070" "07095" "00471071" "07095" "00471073" "07095" "00471075" "07095" "00471077" "07095" "00471078" "07095" "00471080" "07095" "00471081" "07095" "00471082" "07095" "00471083" "07095" "00471085" "07095" "00471086" "07095" "00471088" "07095" "00471089" "07095" "00471090" "07095" "00471091" "07095" "00471101" "07095" "00471104" "07095" "00471105" "07095" "00471106" "07095" "00471107" "07095" "00471108" "07095" "00471110" "07095" "00471111" "07095" "00471113" "07095" "00471118" "07095" "00471119" "07095" "00471120" "07095" "00471123" "07095" "00471124" "07095" "00471126" "07095" "00471127" "07095" "00471129" "07095" "00471130" "07095" "00471131" "07095" "00471132" "07095" "00471133" "07095" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01576, 07095, 07212, 07213, 07214, 07215 ## Count = 174 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000355662" "07095" "00470775" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355663" "07095" "00470776" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355664" "07095" "00470777" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355670" "07095" "00470783" "00006" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355671" "07095" "00470784" "00006" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355672" "07095" "00470785" "00006" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355673" "07095" "00470786" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355674" "07095" "00470787" "00006" "Familial, autosomal recessive" "34y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355675" "07095" "00470788" "00006" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355676" "07095" "00470789" "00006" "Familial, autosomal recessive" "4y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355677" "07095" "00470790" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355678" "07095" "00470791" "00006" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355679" "07095" "00470792" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355680" "07095" "00470793" "00006" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355681" "07095" "00470794" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355682" "07095" "00470795" "00006" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355715" "07095" "00470828" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "4y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355716" "07095" "00470829" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "1y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355717" "07095" "00470830" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "21y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355718" "07095" "00470831" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "18y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355719" "07095" "00470832" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "14y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355720" "07095" "00470833" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "22y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355721" "07095" "00470834" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "4y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355722" "07095" "00470835" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "44y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355723" "07095" "00470836" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "5y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355724" "07095" "00470837" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "5y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355725" "07095" "00470838" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "21y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355726" "07095" "00470839" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "2y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355727" "07095" "00470840" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe" "" "1y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355728" "07095" "00470841" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "3y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355729" "07095" "00470842" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "5y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355730" "07095" "00470843" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "12y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355731" "07095" "00470844" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "32y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355734" "07095" "00470850" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355735" "07095" "00470851" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355736" "07095" "00470852" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355737" "07095" "00470853" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355738" "07095" "00470854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355739" "07095" "00470855" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355740" "07095" "00470856" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355741" "07095" "00470857" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355742" "07095" "00470858" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355743" "07095" "00470859" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355744" "07095" "00470860" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355745" "07095" "00470861" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355746" "07095" "00470862" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355747" "07095" "00470863" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355748" "07095" "00470864" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355749" "07095" "00470865" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355750" "07095" "00470866" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355751" "07095" "00470867" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355761" "07095" "00470877" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., epistaxes, gingival bleedings, ecchymoses" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355764" "07095" "00470881" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., 9m-severe bruising, epistaxis" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355765" "07095" "00470882" "00006" "Familial, autosomal recessive" "22y" "see pper; ..., 2y-recurrent epistaxis/purpura" "" "" "" "" "" "" "" "GT1" "thrombasthenia" "0000355766" "07095" "00470883" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., 4y-excessive bruising" "" "" "" "" "" "" "" "GT1" "thrombasthenia" "0000355767" "07095" "00470884" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., 1d-epistaxis; excessive bruising, gastric hemorrhage, hematuria" "" "" "" "" "" "" "" "" "thrombasthenia" "0000355768" "07095" "00470885" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., 3y-epistaxis, gingival hemorrhage, purpura" "" "" "" "" "" "" "" "GT1" "thrombasthenia" "0000355769" "07095" "00470886" "00006" "Familial, autosomal recessive" "40y" "see paper; ..., life-long history moderate mucocutaneous bleeding" "" "" "" "" "" "" "" "gt1" "thrombasthenia" "0000355770" "07095" "00470887" "00006" "Familial, autosomal recessive" "44y" "see paper; ..." "" "" "" "" "" "" "" "GT1" "thrombasthenia" "0000355775" "07095" "00470894" "00006" "Familial, autosomal recessive" "" "see paper; ..., bleeding" "" "01y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355776" "07095" "00470895" "00006" "Familial, autosomal recessive" "" "see paper; ..., bleeding; strong family history" "" "08y" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355777" "07095" "00470896" "00006" "Familial, autosomal recessive" "" "see paper; ..., bleeding" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355778" "07095" "00470897" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., from birth history of bleeding episodes, unprovoked bruising" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355779" "07095" "00470898" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., frequent mucocutaneous bleeding, transfusion being required shortly after birth; absence of platelet aggregation in response to ADP/epinephrine/thrombin/collagen; normal platelet agglutination with ristocetin; <0.02 normal platelet content of GPIIb–IIIa" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355780" "07095" "00470899" "00006" "Familial, autosomal recessive" "" "see paper; ..., lifelong mucocutaneous bleeding, normal platelet count, prolonged bleeding time, absent platelet aggregation in response to multiple agonists" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355784" "07215" "00470905" "00006" "Isolated (sporadic)" "43y" "see paper; ..., severe bleeding phenotype, defective platelet aggregation/adhesion" "" "" "" "" "" "" "" "BDPLT24" "bleeding disorder" "0000355793" "07213" "00470913" "00006" "Familial" "" "see paper; ..., birth-33w vacuum (premature labor), blood PLT count of 61×10+9/L, petechial hemorrhages" "" "" "" "" "" "" "" "FMAIT" "neonatal alloimmune thrombocytopenia" "0000355796" "07212" "00470924" "00006" "Familial" "" "see paper; ..., birth-petechiae, extensive hematomas, no hepatomegaly, no splenomegaly, no nfections, no neurologic damage, platelet count 6×10+9/L" "" "" "" "" "" "" "" "FMAIT2" "neonatal alloimmune thrombocytopenia" "0000355797" "07212" "00470925" "00006" "Familial" "" "see paper; ..., severe thrombocytopenia, platelet count 17×10+9/L, petechiae" "" "" "" "" "" "" "" "FMAIT2" "fetomaternal alloimmune thrombocytopenia" "0000355804" "07095" "00470940" "00006" "Familial, autosomal recessive" "38y" "see paper; ..., easy bruising since birth, evere nasal bleeding irregular intervals; red cell transfusions required several times; menorrhagia since first menstruation" "" "" "" "" "" "" "" "GT1" "bleeding disorder" "0000355805" "07095" "00470942" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "bleeding disorder" "0000355806" "07095" "00470943" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "bleeding disorder" "0000355809" "07095" "00470946" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., severe bleeding, petechia and hematomas since childbirth, also fever and infections since childbirth; absent platelet aggregation; WHO4 bleeding score 4; moderate immunodeficiency." "" "06y" "" "" "" "" "" "LAD3" "Glanzmann thrombasthenia" "0000355813" "07095" "00470950" "00006" "Familial, autosomal recessive" "82y" "82y-deceased (lung cancer with brain metastasis); easy bruising, epistaxis, severe gastrointestinal bleeding in later life; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355814" "07095" "00470951" "00006" "Familial, autosomal recessive" "45y" "mild lifelong bleeding; residual platelet aggregation; WHO4 bleeding score 1" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355815" "07095" "00470952" "00006" "Familial, autosomal recessive" "54y" "severe epistaxis, gingival bleeding, menorrhagia, spontaneous bruising; absent platelet aggregation; WHO4 bleeding score 3; skeletal defects" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355817" "07095" "00470954" "00006" "Familial, autosomal recessive" "14y" "petechiae, moderate bleeding syndrome; absent platelet aggregation;" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355818" "07095" "00470955" "00006" "Familial, autosomal recessive" "10y" "purpura, moderate cutaneous bleeding from birth, prolonged bleeding after tooth removal; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355819" "07095" "00470956" "00006" "Familial, autosomal recessive" "35y" "bleeding from birth, ecchymoses, petechial, severe epistaxis, bleeding from teeth and gums. hematomas from exercise (ballet).; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355820" "07095" "00470957" "00006" "Familial, autosomal recessive" "20y" "mild ecchymoses, easy bruising; residual platelet aggregation (high dose ADP, coll); WHO4 bleeding score 1" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355821" "07095" "00470958" "00006" "Familial, autosomal recessive" "44y" "menorraghia, epistaxis, easy bruising and gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355822" "07095" "00470959" "00006" "Unknown" "28y" "epistaxis, occasional hematomas, hemarthrosis (knee); absent platelet aggregation; WHO4 bleeding score 1" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355823" "07095" "00470960" "00006" "Familial, autosomal recessive" "61y" "epistaxis, gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355824" "07095" "00470961" "00006" "Familial, autosomal recessive" "13y" "easy bruising, gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355826" "07095" "00470963" "00006" "Familial, autosomal recessive" "45y" "post-traumatic hematomas and epistaxis, menorrhagia (linked to a uterine fibroma); absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355827" "07095" "00470964" "00006" "Familial, autosomal recessive" "81y" "81y-deceased; lifelong bleeding disorder - severe when young, gastrointestinal bleedings in later life; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355828" "07095" "00470965" "00006" "Familial, autosomal recessive" "45y" "severe epistaxis, easy bruising; much reduced platelet aggregation; WHO4 bleeding score 2; Hirschprung\'s disease" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355829" "07095" "00470966" "00006" "Familial, autosomal recessive" "84y" "84y-deceased; relatively moderate when young (ecchymose, bleeding after trauma); later severe gastrointestinal bleedings; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355830" "07095" "00470967" "00006" "Familial, autosomal recessive" "36y" "absent platelet aggregation;" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355832" "07095" "00470969" "00006" "Familial, autosomal recessive" "13y" "life-threatening bleeding at onset of menses and in later life. rare gum bleeding and epistaxis; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355834" "07095" "00470971" "00006" "Familial, autosomal recessive" "15y" "severe life-threatening bleeding especially epistaxis, gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355835" "07095" "00470972" "00006" "Familial, autosomal recessive" "18y" "severe life-threatening bleeding especially epistaxis. severe gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4; bone marrow transplant" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "0000355836" "07095" "00470973" "00006" "Familial, autosomal recessive" "49y" "mild phenotype with epistaxis, gingivorrhagia, bleeding at onset of menses; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355838" "07095" "00470975" "00006" "Familial, autosomal recessive" "23y" "significant bruising, severe epistaxis (1 episode with shock), major bleeding after tonsillectomy, severe menorrhagia; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355839" "07095" "00470976" "00006" "Familial, autosomal recessive" "17y" "epistaxis, mouth bleeds, easy bruising. heavy bleeding at menarche.; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355840" "07095" "00470977" "00006" "Familial, autosomal recessive" "15y" "frequent and severe epistaxis often requiring hospital treatment, easy bruising; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355841" "07095" "00470978" "00006" "Familial, autosomal recessive" "15y" "cephalohematoma at birth, gastrointestinal bleedings, ecchymoses, circumcision with platelet transfusion but still bleeding; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355843" "07095" "00470980" "00006" "Familial, autosomal recessive" "10y" "absent platelet aggregation;" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355844" "07095" "00470981" "00006" "Familial, autosomal recessive" "86y" "severe epistaxis, gingivorrhagia, gastrointestinal bleeding (ulcer); absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "intellectual disability" "0000355845" "07095" "00470982" "00006" "Unknown" "11y" "severe mucocutaneous bleeding (few details); absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "" "intellectual disability" "0000355847" "07095" "00470984" "00006" "Familial, autosomal recessive" "16y" "severe epistaxis, ecchymoses, post- traumatic hematomas; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "intellectual disability" "0000355850" "07095" "00470987" "00006" "Familial, autosomal recessive" "24y" "epistaxis and hematomas, decreased during adolescence; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "intellectual disability" "0000355853" "07095" "00470990" "00006" "Familial, autosomal recessive" "28y" "epistaxis, gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 3; 3y-sister died (bleeding)" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355854" "07095" "00470991" "00006" "Familial, autosomal recessive" "10y" "hematomas, petechia, epistaxis; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355855" "07095" "00470992" "00006" "Familial, autosomal recessive" "14y" "epistaxis, gingivorrhagia, petechia, hyphema; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355859" "07095" "00470996" "00006" "Familial, autosomal recessive" "26y" "epistaxis, mouth and tonsil bleeding. easy bruising, menorrhagia. mostly gingovorrhagia and ecchymose when adult; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355860" "07095" "00470997" "00006" "Familial, autosomal recessive" "31y" "epistaxis, gingivorrhagia, tonsillar bleeding, menorrhagia, hematuria, gastrointestinal bleeding. bleeding after tooth extraction. muscle hematomas; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355861" "07095" "00470998" "00006" "Familial, autosomal recessive" "15y" "bleeding from birth. cleft palate surgery(at 3mo). regular gingival bleeding, epistaxis, ecchymoses and haematomas; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355862" "07095" "00470999" "00006" "Familial, autosomal recessive" "61y" "mild. gingival bleeding at 6 mo, epistaxis. bleeding after tooth extraction and surgery. trauma -related (car accident); absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355863" "07095" "00471000" "00006" "Familial, autosomal recessive" "62y" "occasional spontaneous bleeding, frequency decreased with age.; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355864" "07095" "00471001" "00006" "Familial, autosomal recessive" "32y" "bruising, purpura, severe recurrent epistaxis, menorrhagia. post-operative bleeding (nose, ear, knee arthroplasty). dental extraction without bleeding.; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355866" "07095" "00471003" "00006" "Familial, autosomal recessive" "56y" "marked bleeding syndrome with epistaxis, ecchymoses, gingivorrhagia, menorrhagia. bleeding after tooth extraction.gastrointestinal bleeding due to a rectal polyp treated by photocoagulation.; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355868" "07095" "00471005" "00006" "Familial, autosomal recessive" "14y" "important during childhood. serious mouth bleeding with several hospital stays. post-traumatic heavy bruising. gastrointestinal bleeding and melena. heavy bleeding after adenoid removal.; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355869" "07095" "00471006" "00006" "Familial, autosomal recessive" "9y" "ecchymoses, severe epistaxis (4 hospital stays - with treatment). rare gingivorrhagias. loss of deciduous teeth with bleeding. hematomas in eye and under clavicle; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355870" "07095" "00471007" "00006" "Familial, autosomal recessive" "54y" "gastrointestinal bleeding. otherwise moderate bleeding syndrome. hemorrhoids, three surgical interventions under rfviia; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355872" "07095" "00471009" "00006" "Familial, autosomal recessive" "16y" "severe life-threatening bleeding especially epistaxis. severe gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4; bone marrow transplant" "" "" "" "" "" "" "" "GT2" "severe adolescent idiopathic scoliosis" "0000355873" "07095" "00471010" "00006" "Familial, autosomal recessive" "60y" "mild when child but severe repeated epistaxis when adult. embolization of the submaxillary artery.; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355874" "07095" "00471011" "00006" "Familial, autosomal recessive" "18y" "significant bruising, hematoma after minor trauma, epistaxis; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355875" "07095" "00471012" "00006" "Familial, autosomal recessive" "13y" "epistaxis, ecchymoses, easy bruising (less severe than sister); absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "GT1" "severe adolescent idiopathic scoliosis" "0000355877" "07095" "00471014" "00006" "Familial, autosomal recessive" "47y" "little spontaneous bleeding as a child but extensive bleeding after trauma. menorrhagia, severe postpartum hemorrhage, intra-abdominal bleeding; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "GT1" "" "0000355880" "07095" "00471049" "00006" "Familial, autosomal recessive" "5y" "bruising, purpura, ecchymosis, epistaxis; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355881" "07095" "00471050" "00006" "Unknown" "13y" "bruising, purpura, ecchymosis, epistaxis; mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355882" "07095" "00471051" "00006" "Unknown" "12y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355883" "07095" "00471052" "00006" "Familial, autosomal recessive" "22y" "bruising, purpura, ecchymosis, gingival bleeding, menorrhagia; mitigation; normal platelet number; bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355884" "07095" "00471053" "00006" "Familial, autosomal recessive" "25y" "deceased; intracranial hemorrhage, menorrhagia, epistaxis, gastrointestinal bleeding, post traumatic hemorrhage; no mitigation; normal platelet number; bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355885" "07095" "00471054" "00006" "Familial, autosomal recessive" "7y" "bruising, purpura, ecchymosis, epistaxis; no mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355886" "07095" "00471055" "00006" "Familial, autosomal recessive" "31y" "bruising, purpura, ecchymosis, epistaxis, menorrhagia; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355887" "07095" "00471056" "00006" "Familial, autosomal recessive" "9y" "bruising, purpura, ecchymosis, epistaxis ; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355888" "07095" "00471057" "00006" "Familial, autosomal recessive" "25y" "epistaxis, menorrhagia; mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355889" "07095" "00471058" "00006" "Familial, autosomal recessive" "8y" "bruising, purpura, ecchymosis, epistaxis; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355891" "07095" "00471060" "00006" "Unknown" "10y" "bruising, purpura, ecchymosis, epistaxis; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355893" "07095" "00471062" "00006" "Familial, autosomal recessive" "5y" "gingival bleeding, epistaxis, bruising, purpura, ecchymosis; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355896" "07095" "00471065" "00006" "Familial, autosomal recessive" "31y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding; mitigation; minor decrease platelet number; bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355897" "07095" "00471066" "00006" "Familial, autosomal recessive" "14y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding, post traumatic hemorrhage; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355898" "07095" "00471067" "00006" "Familial, autosomal recessive" "15y" "bruising, purpura, ecchymosis, epistaxis, gastrointestinal bleeding, post traumatic hemorrhage; mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355899" "07095" "00471068" "00006" "Familial, autosomal recessive" "20y" "epistaxis; mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355900" "07095" "00471069" "00006" "Familial, autosomal recessive" "32y" "epistaxis, gingival bleeding, hematuria, post traumatic hemorrhage, menorrhagia ; no mitigation; normal platelet number; bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355901" "07095" "00471070" "00006" "Familial, autosomal recessive" "30y" "gingival bleeding; mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355902" "07095" "00471071" "00006" "Familial, autosomal recessive" "23y" "bruising, purpura, ecchymosis, menorrhagia ; mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355904" "07095" "00471073" "00006" "Unknown" "16y" "menorrhagia; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355906" "07095" "00471075" "00006" "Familial, autosomal recessive" "7y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355908" "07095" "00471077" "00006" "Familial, autosomal recessive" "13y" "bruising, purpura, ecchymosis; mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355909" "07095" "00471078" "00006" "Unknown" "39y" "bruising, purpura, ecchymosis, post traumatic hemorrhage; mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355911" "07095" "00471080" "00006" "Familial, autosomal recessive" "16y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding, menorrhagia; mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355912" "07095" "00471081" "00006" "Familial, autosomal recessive" "13y" "epistaxis, bruising, purpura, ecchymosis, gingival bleeding, menorrhagia; no mitigation; normal platelet number; bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355913" "07095" "00471082" "00006" "Unknown" "13y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355914" "07095" "00471083" "00006" "Familial, autosomal recessive" "9y" "epistaxis; mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355916" "07095" "00471085" "00006" "Unknown" "3y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding, post traumatic hemorrhage; no mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355917" "07095" "00471086" "00006" "Familial, autosomal recessive" "1y" "bruising, purpura, ecchymosis; no mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355919" "07095" "00471088" "00006" "Familial, autosomal recessive" "1y" "bruising, purpura, ecchymosis; no mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355920" "07095" "00471089" "00006" "Unknown" "23y" "bruising, purpura, ecchymosis, menorrhagia; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355921" "07095" "00471090" "00006" "Familial, autosomal recessive" "25y" "post traumatic hemorrhage (subdural hematoma after trauma); no mitigation; normal platelet number; bleeding score 4" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355922" "07095" "00471091" "00006" "Familial, autosomal recessive" "5y" "bruising, purpura, ecchymosis, epistaxis; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355935" "07095" "00471101" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355938" "07095" "00471104" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355939" "07095" "00471105" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355940" "07095" "00471106" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355941" "07095" "00471107" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355942" "07095" "00471108" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355944" "07095" "00471110" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355945" "07095" "00471111" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355947" "07095" "00471113" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355952" "07095" "00471118" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355953" "07095" "00471119" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355954" "07095" "00471120" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355957" "07095" "00471123" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355958" "07095" "00471124" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355960" "07095" "00471126" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" "0000355961" "07095" "00471127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355963" "07095" "00471129" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355964" "07095" "00471130" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355965" "07095" "00471131" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355966" "07095" "00471132" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "0000355967" "07095" "00471133" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "GT1" "Glanzmann thrombasthenia" ## Screenings ## Do not remove or alter this header ## ## Count = 179 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000472441" "00470775" "1" "00006" "00006" "2025-12-10 17:39:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472442" "00470776" "1" "00006" "00006" "2025-12-10 17:39:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472443" "00470777" "1" "00006" "00006" "2025-12-10 17:39:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472449" "00470783" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472450" "00470784" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472451" "00470785" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472452" "00470786" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472453" "00470787" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472454" "00470788" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472455" "00470789" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472456" "00470790" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472457" "00470791" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472458" "00470792" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472459" "00470793" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472460" "00470794" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472461" "00470795" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472494" "00470828" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472495" "00470829" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472496" "00470830" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472497" "00470831" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472498" "00470832" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472499" "00470833" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472500" "00470834" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472501" "00470835" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472502" "00470836" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472503" "00470837" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472504" "00470838" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472505" "00470839" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472506" "00470840" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472507" "00470841" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472508" "00470842" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472509" "00470843" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472510" "00470844" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472516" "00470850" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472517" "00470851" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472518" "00470852" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472519" "00470853" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472520" "00470854" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472521" "00470855" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472522" "00470856" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472523" "00470857" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472524" "00470858" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472525" "00470859" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472526" "00470860" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472527" "00470861" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472528" "00470862" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472529" "00470863" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472530" "00470864" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472531" "00470865" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472532" "00470866" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472533" "00470867" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472543" "00470877" "1" "00006" "00006" "2025-12-12 10:37:26" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472545" "00470879" "1" "00006" "00006" "2025-12-12 10:59:33" "" "" "SEQ" "DNA" "" "" "0000472547" "00470881" "1" "00006" "00006" "2025-12-12 11:19:23" "" "" "SEQ" "DNA" "" "" "0000472548" "00470882" "1" "00006" "00006" "2025-12-12 12:22:58" "" "" "SEQ" "DNA" "" "" "0000472549" "00470883" "1" "00006" "00006" "2025-12-12 12:25:41" "" "" "SEQ" "DNA" "" "" "0000472550" "00470884" "1" "00006" "00006" "2025-12-12 12:28:13" "" "" "SEQ" "DNA" "" "" "0000472551" "00470885" "1" "00006" "00006" "2025-12-12 12:34:58" "" "" "SEQ;SSCA" "DNA" "" "" "0000472552" "00470886" "1" "00006" "00006" "2025-12-12 12:48:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472553" "00470887" "1" "00006" "00006" "2025-12-12 12:52:09" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472560" "00470894" "1" "00006" "00006" "2025-12-12 18:11:00" "00006" "2025-12-12 18:19:44" "SEQ" "DNA" "" "" "0000472561" "00470895" "1" "00006" "00006" "2025-12-12 18:23:53" "" "" "SEQ" "DNA" "" "" "0000472562" "00470896" "1" "00006" "00006" "2025-12-12 18:29:03" "" "" "SEQ" "DNA" "" "" "0000472563" "00470897" "1" "00006" "00006" "2025-12-12 18:36:13" "00006" "2025-12-12 18:46:02" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000472564" "00470898" "1" "00006" "00006" "2025-12-12 18:50:53" "" "" "SEQ;SSCA" "DNA" "" "" "0000472565" "00470899" "1" "00006" "00006" "2025-12-12 19:00:58" "" "" "SEQ" "DNA" "" "" "0000472571" "00470905" "1" "00006" "00006" "2025-12-13 09:30:03" "" "" "SEQ" "DNA" "" "" "0000472579" "00470913" "1" "00006" "00006" "2025-12-13 16:10:36" "" "" "SEQ" "DNA" "" "" "0000472590" "00470924" "1" "00006" "00006" "2025-12-13 18:43:59" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000472591" "00470925" "1" "00006" "00006" "2025-12-13 18:52:17" "" "" "SEQ" "DNA" "" "" "0000472592" "00470926" "1" "00006" "00006" "2025-12-13 19:03:41" "" "" "SEQ" "DNA" "" "" "0000472593" "00470927" "1" "00006" "00006" "2025-12-13 19:05:58" "" "" "SEQ" "DNA" "" "" "0000472594" "00470928" "1" "00006" "00006" "2025-12-13 19:08:56" "" "" "SEQ" "DNA" "" "" "0000472606" "00470940" "1" "00006" "00006" "2025-12-14 10:49:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472607" "00470941" "1" "00006" "00006" "2025-12-14 10:57:40" "" "" "SEQ" "DNA" "" "" "0000472608" "00470942" "1" "00006" "00006" "2025-12-14 17:09:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472609" "00470943" "1" "00006" "00006" "2025-12-14 17:16:23" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472612" "00470946" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472616" "00470950" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472617" "00470951" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472618" "00470952" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472620" "00470954" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472621" "00470955" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472622" "00470956" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472623" "00470957" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472624" "00470958" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472625" "00470959" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472626" "00470960" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472627" "00470961" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472629" "00470963" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472630" "00470964" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472631" "00470965" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472632" "00470966" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472633" "00470967" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472635" "00470969" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472637" "00470971" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472638" "00470972" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472639" "00470973" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472641" "00470975" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472642" "00470976" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472643" "00470977" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472644" "00470978" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472646" "00470980" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472647" "00470981" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472648" "00470982" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472650" "00470984" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472653" "00470987" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472656" "00470990" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472657" "00470991" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472658" "00470992" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472662" "00470996" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472663" "00470997" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472664" "00470998" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472665" "00470999" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472666" "00471000" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472667" "00471001" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472669" "00471003" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472671" "00471005" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472672" "00471006" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472673" "00471007" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472675" "00471009" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472676" "00471010" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472677" "00471011" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472678" "00471012" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472680" "00471014" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472718" "00471049" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472719" "00471050" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472720" "00471051" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472721" "00471052" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472722" "00471053" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472723" "00471054" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472724" "00471055" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472725" "00471056" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472726" "00471057" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472727" "00471058" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472729" "00471060" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472731" "00471062" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472734" "00471065" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472735" "00471066" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472736" "00471067" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472737" "00471068" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472738" "00471069" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472739" "00471070" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472740" "00471071" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472742" "00471073" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472744" "00471075" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472746" "00471077" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472747" "00471078" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472749" "00471080" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472750" "00471081" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472751" "00471082" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472752" "00471083" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472754" "00471085" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472755" "00471086" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472757" "00471088" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472758" "00471089" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472759" "00471090" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472760" "00471091" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472771" "00471101" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472774" "00471104" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472775" "00471105" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472776" "00471106" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472777" "00471107" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472778" "00471108" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472780" "00471110" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472781" "00471111" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472783" "00471113" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472788" "00471118" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472789" "00471119" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472790" "00471120" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472793" "00471123" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472794" "00471124" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472796" "00471126" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472797" "00471127" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472799" "00471129" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472800" "00471130" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472801" "00471131" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472802" "00471132" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472803" "00471133" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 179 "{{screeningid}}" "{{geneid}}" "0000472441" "ITGA2B" "0000472442" "ITGA2B" "0000472443" "ITGA2B" "0000472449" "ITGA2B" "0000472450" "ITGA2B" "0000472451" "ITGA2B" "0000472452" "ITGA2B" "0000472453" "ITGA2B" "0000472454" "ITGA2B" "0000472455" "ITGA2B" "0000472456" "ITGA2B" "0000472457" "ITGA2B" "0000472458" "ITGA2B" "0000472459" "ITGA2B" "0000472460" "ITGA2B" "0000472461" "ITGA2B" "0000472494" "ITGA2B" "0000472495" "ITGA2B" "0000472496" "ITGA2B" "0000472497" "ITGA2B" "0000472498" "ITGA2B" "0000472499" "ITGA2B" "0000472500" "ITGA2B" "0000472501" "ITGA2B" "0000472502" "ITGA2B" "0000472503" "ITGA2B" "0000472504" "ITGA2B" "0000472505" "ITGA2B" "0000472506" "ITGA2B" "0000472507" "ITGA2B" "0000472508" "ITGA2B" "0000472509" "ITGA2B" "0000472510" "ITGA2B" "0000472516" "ITGA2B" "0000472517" "ITGA2B" "0000472518" "ITGA2B" "0000472519" "ITGA2B" "0000472520" "ITGA2B" "0000472521" "ITGA2B" "0000472522" "ITGA2B" "0000472523" "ITGA2B" "0000472524" "ITGA2B" "0000472525" "ITGA2B" "0000472526" "ITGA2B" "0000472527" "ITGA2B" "0000472528" "ITGA2B" "0000472529" "ITGA2B" "0000472530" "ITGA2B" "0000472531" "ITGA2B" "0000472532" "ITGA2B" "0000472533" "ITGA2B" "0000472543" "ITGA2B" "0000472545" "ITGA2B" "0000472547" "ITGA2B" "0000472548" "ITGA2B" "0000472549" "ITGA2B" "0000472550" "ITGA2B" "0000472551" "ITGA2B" "0000472552" "ITGA2B" "0000472553" "ITGA2B" "0000472560" "ITGA2B" "0000472561" "ITGA2B" "0000472562" "ITGA2B" "0000472563" "ITGA2B" "0000472564" "ITGA2B" "0000472565" "ITGA2B" "0000472571" "ITGB3" "0000472579" "ITGA2B" "0000472590" "ITGA2B" "0000472591" "ITGA2B" "0000472592" "ITGA2B" "0000472593" "ITGA2B" "0000472594" "ITGA2B" "0000472606" "ITGA2B" "0000472607" "ITGA2B" "0000472608" "ITGA2B" "0000472609" "ITGA2B" "0000472612" "ITGA2B" "0000472616" "ITGA2B" "0000472617" "ITGA2B" "0000472618" "ITGA2B" "0000472620" "ITGA2B" "0000472621" "ITGA2B" "0000472622" "ITGA2B" "0000472623" "ITGA2B" "0000472624" "ITGA2B" "0000472625" "ITGA2B" "0000472626" "ITGA2B" "0000472627" "ITGA2B" "0000472629" "ITGA2B" "0000472630" "ITGA2B" "0000472631" "ITGA2B" "0000472632" "ITGA2B" "0000472633" "ITGA2B" "0000472635" "ITGA2B" "0000472637" "ITGA2B" "0000472638" "ITGB3" "0000472639" "ITGA2B" "0000472641" "ITGA2B" "0000472642" "ITGA2B" "0000472643" "ITGA2B" "0000472644" "ITGA2B" "0000472646" "ITGA2B" "0000472647" "ITGA2B" "0000472648" "ITGA2B" "0000472650" "ITGA2B" "0000472653" "ITGA2B" "0000472656" "ITGA2B" "0000472657" "ITGA2B" "0000472658" "ITGA2B" "0000472662" "ITGA2B" "0000472663" "ITGA2B" "0000472664" "ITGA2B" "0000472665" "ITGA2B" "0000472666" "ITGA2B" "0000472667" "ITGA2B" "0000472669" "ITGA2B" "0000472671" "ITGA2B" "0000472672" "ITGA2B" "0000472673" "ITGA2B" "0000472675" "ITGB3" "0000472676" "ITGA2B" "0000472677" "ITGA2B" "0000472678" "ITGA2B" "0000472680" "ITGA2B" "0000472718" "ITGA2B" "0000472719" "ITGA2B" "0000472720" "ITGA2B" "0000472721" "ITGA2B" "0000472722" "ITGA2B" "0000472723" "ITGA2B" "0000472724" "ITGA2B" "0000472725" "ITGA2B" "0000472726" "ITGA2B" "0000472727" "ITGA2B" "0000472729" "ITGA2B" "0000472731" "ITGA2B" "0000472734" "ITGA2B" "0000472735" "ITGA2B" "0000472736" "ITGA2B" "0000472737" "ITGA2B" "0000472738" "ITGA2B" "0000472739" "ITGA2B" "0000472740" "ITGA2B" "0000472742" "ITGA2B" "0000472744" "ITGA2B" "0000472746" "ITGA2B" "0000472747" "ITGA2B" "0000472749" "ITGA2B" "0000472750" "ITGA2B" "0000472751" "ITGA2B" "0000472752" "ITGA2B" "0000472754" "ITGA2B" "0000472755" "ITGA2B" "0000472757" "ITGA2B" "0000472758" "ITGA2B" "0000472759" "ITGA2B" "0000472760" "ITGA2B" "0000472771" "ITGA2B" "0000472774" "ITGA2B" "0000472775" "ITGA2B" "0000472776" "ITGA2B" "0000472777" "ITGA2B" "0000472778" "ITGA2B" "0000472780" "ITGA2B" "0000472781" "ITGA2B" "0000472783" "ITGA2B" "0000472788" "ITGA2B" "0000472789" "ITGA2B" "0000472790" "ITGA2B" "0000472793" "ITGA2B" "0000472794" "ITGA2B" "0000472796" "ITGA2B" "0000472797" "ITGA2B" "0000472799" "ITGA2B" "0000472800" "ITGA2B" "0000472801" "ITGA2B" "0000472802" "ITGA2B" "0000472803" "ITGA2B" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 280 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000251885" "0" "30" "17" "42453065" "42453065" "subst" "0.389805" "02326" "ITGA2B_000001" "g.42453065A>C" "" "" "" "ITGA2B(NM_000419.3):c.2621T>G (p.I874S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44375697A>C" "" "likely benign" "" "0000254571" "0" "30" "17" "42453727" "42453727" "subst" "4.06062E-6" "01943" "ITGA2B_000002" "g.42453727A>G" "" "" "" "ITGA2B(NM_000419.3):c.2297T>C (p.I766T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44376359A>G" "" "likely benign" "" "0000341667" "0" "90" "17" "42449776" "42449776" "subst" "0" "02327" "ITGA2B_000003" "g.42449776G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44372408G>A" "" "pathogenic" "" "0000342739" "0" "90" "17" "42460975" "42460975" "subst" "0" "02327" "ITGA2B_000004" "g.42460975G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44383607G>A" "" "pathogenic" "" "0000561931" "0" "90" "17" "42451720" "42451720" "subst" "1.62489E-5" "02327" "ITGA2B_000005" "g.42451720A>G" "" "" "" "ITGA2B(NM_000419.5):c.3060+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44374352A>G" "" "pathogenic" "" "0000561932" "0" "50" "17" "42457474" "42457474" "subst" "2.0464E-5" "01943" "ITGA2B_000006" "g.42457474G>A" "" "" "" "ITGA2B(NM_000419.3):c.1648C>T (p.R550W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44380106G>A" "" "VUS" "" "0000561933" "0" "30" "17" "42463006" "42463006" "subst" "0.000424687" "02326" "ITGA2B_000007" "g.42463006A>G" "" "" "" "ITGA2B(NM_000419.3):c.487T>C (p.L163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44385638A>G" "" "likely benign" "" "0000561934" "0" "30" "17" "42463036" "42463036" "subst" "0.000146747" "01943" "ITGA2B_000008" "g.42463036C>T" "" "" "" "ITGA2B(NM_000419.3):c.457G>A (p.A153T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44385668C>T" "" "likely benign" "" "0000726452" "0" "90" "17" "42457368" "42457368" "subst" "4.06937E-6" "01943" "ITGA2B_000009" "g.42457368A>G" "" "" "" "ITGA2B(NM_000419.3):c.1752+2T>C, ITGA2B(NM_000419.5):c.1752+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808041" "0" "90" "17" "42451720" "42451720" "subst" "1.62489E-5" "02325" "ITGA2B_000005" "g.42451720A>G" "" "" "" "ITGA2B(NM_000419.5):c.3060+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854947" "0" "30" "17" "42452054" "42452054" "subst" "0.00293539" "02326" "ITGA2B_000010" "g.42452054C>T" "" "" "" "ITGA2B(NM_000419.3):c.2916G>A (p.P972=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854948" "0" "50" "17" "42457473" "42457473" "subst" "2.86613E-5" "02327" "ITGA2B_000011" "g.42457473C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854949" "0" "90" "17" "42462967" "42462967" "subst" "0" "02327" "ITGA2B_000013" "g.42462967G>C" "" "" "" "ITGA2B(NM_000419.3):c.526C>G (p.P176A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865311" "0" "30" "17" "42457677" "42457677" "subst" "0.00350866" "02326" "ITGA2B_000012" "g.42457677G>T" "" "" "" "ITGA2B(NM_000419.3):c.1545-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865312" "0" "90" "17" "42462967" "42462967" "subst" "0" "02326" "ITGA2B_000013" "g.42462967G>C" "" "" "" "ITGA2B(NM_000419.3):c.526C>G (p.P176A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893960" "0" "50" "17" "42457452" "42457452" "subst" "0" "02327" "ITGA2B_000014" "g.42457452G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926516" "0" "30" "17" "42451817" "42451817" "subst" "0.000617379" "02326" "ITGA2B_000015" "g.42451817C>T" "" "" "" "ITGA2B(NM_000419.3):c.2965G>A (p.A989T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926517" "0" "30" "17" "42453291" "42453291" "subst" "0.0023014" "02326" "ITGA2B_000016" "g.42453291C>G" "" "" "" "ITGA2B(NM_000419.3):c.2511G>C (p.Q837H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971530" "0" "90" "17" "42454375" "42454375" "subst" "0" "03779" "ITGA2B_000018" "g.42454375A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000971531" "0" "90" "17" "42452448" "42452449" "del" "0" "03779" "ITGA2B_000017" "g.42452448_42452449del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000982544" "0" "90" "17" "42452059" "42452059" "dup" "0" "02326" "ITGA2B_000019" "g.42452059dup" "" "" "" "ITGA2B(NM_000419.3):c.2915dupC (p.L973Afs*63)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982545" "0" "70" "17" "42453675" "42453675" "subst" "0" "01804" "ITGA2B_000020" "g.42453675C>G" "" "" "" "ITGA2B(NM_000419.5):c.2348+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982546" "0" "90" "17" "42457368" "42457368" "subst" "4.06937E-6" "01804" "ITGA2B_000009" "g.42457368A>G" "" "" "" "ITGA2B(NM_000419.3):c.1752+2T>C, ITGA2B(NM_000419.5):c.1752+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982547" "0" "10" "17" "42463054" "42463054" "subst" "0.00921231" "02329" "ITGA2B_000021" "g.42463054G>C" "" "" "" "ITGA2B(NM_000419.5):c.439C>G (p.L147V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001003315" "0" "90" "17" "42449760" "42449760" "del" "0" "02327" "ITGA2B_000022" "g.42449760del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056044" "0" "50" "17" "42455805" "42455805" "subst" "4.10934E-6" "01804" "ITGA2B_000023" "g.42455805C>G" "" "" "" "ITGA2B(NM_000419.5):c.2019G>C (p.(Glu673Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061043" "3" "90" "17" "42463076" "42463088" "del" "0" "00006" "ITGA2B_000088" "g.42463076_42463088del" "" "{PMID:Newman 1991:2014236}" "" "410-427del" "" "Germline" "" "" "0" "" "" "g.44385708_44385720del" "" "pathogenic (recessive)" "" "0001061044" "3" "90" "17" "42463076" "42463088" "del" "0" "00006" "ITGA2B_000088" "g.42463076_42463088del" "" "{PMID:Newman 1991:2014236}" "" "410-427del" "" "Germline" "" "" "0" "" "" "g.44385708_44385720del" "" "pathogenic (recessive)" "" "0001061045" "3" "90" "17" "42463076" "42463088" "del" "0" "00006" "ITGA2B_000088" "g.42463076_42463088del" "" "{PMID:Newman 1991:2014236}" "" "410-427del" "" "Germline" "" "" "0" "" "" "g.44385708_44385720del" "" "pathogenic (recessive)" "" "0001061052" "3" "90" "17" "42453344" "42453344" "del" "0" "00006" "ITGA2B_000062" "g.42453344del" "" "{PMID:Peretz 2006:16463284}" "" "2458delA" "" "Germline" "" "" "0" "" "" "g.44375976del" "" "pathogenic (recessive)" "" "0001061053" "3" "90" "17" "42463445" "42463445" "dup" "0" "00006" "ITGA2B_000090" "g.42463445dup" "" "{PMID:Peretz 2006:16463284}" "" "243dupG" "" "Germline" "" "" "0" "" "" "g.44386077dup" "" "pathogenic (recessive)" "" "0001061054" "3" "90" "17" "42455811" "42455811" "del" "0" "00006" "ITGA2B_000065" "g.42455811del" "" "{PMID:Peretz 2006:16463284}" "" "2013delG" "" "Germline" "" "" "0" "" "" "g.44378443del" "" "pathogenic (recessive)" "" "0001061055" "3" "50" "17" "42462599" "42462599" "subst" "0" "00006" "ITGA2B_000086" "g.42462599T>G" "" "{PMID:Peretz 2006:16463284}" "" "575-22A>C" "" "Germline" "" "" "0" "" "" "g.44385231T>G" "" "VUS" "" "0001061056" "3" "90" "17" "42463077" "42463077" "subst" "0" "00006" "ITGA2B_000089" "g.42463077G>A" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.44385709G>A" "" "pathogenic (recessive)" "" "0001061057" "3" "90" "17" "42452072" "42452076" "dup" "0" "00006" "ITGA2B_000057" "g.42452072_42452076dup" "" "{PMID:Peretz 2006:16463284}" "" "2898_2902dupCCCCT" "" "Germline" "" "" "0" "" "" "g.44374704_44374708dup" "" "pathogenic (recessive)" "" "0001061058" "1" "90" "17" "42452040" "42452041" "del" "0" "00006" "ITGA2B_000055" "g.42452040_42452041del" "" "{PMID:Peretz 2006:16463284}" "" "2929_2930delCG" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44374672_44374673del" "" "pathogenic (recessive)" "" "0001061059" "3" "90" "17" "42461955" "42461955" "subst" "0" "00006" "ITGA2B_000082" "g.42461955T>C" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.44384587T>C" "" "pathogenic (recessive)" "" "0001061060" "3" "90" "17" "42460932" "42460932" "subst" "0" "00006" "ITGA2B_000076" "g.42460932C>A" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.44383564C>A" "" "pathogenic (recessive)" "" "0001061061" "1" "90" "17" "42462433" "42462433" "subst" "0" "00006" "ITGA2B_000085" "g.42462433G>A" "" "{PMID:Peretz 2006:16463284}" "" "683C>T" "" "Germline" "" "" "0" "" "" ".g44385065G>A" "" "pathogenic (recessive)" "" "0001061062" "3" "90" "17" "42451829" "42451829" "subst" "0" "00006" "ITGA2B_000053" "g.42451829G>A" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.44374461G>A" "" "pathogenic (recessive)" "" "0001061063" "3" "90" "17" "42462389" "42462389" "del" "0" "00006" "ITGA2B_000083" "g.42462389del" "" "{PMID:Peretz 2006:16463284}" "" "726delC" "" "Germline" "" "" "0" "" "" "g.44385021del" "" "pathogenic (recessive)" "" "0001061064" "3" "90" "17" "42457778" "42457778" "subst" "0" "00006" "ITGA2B_000073" "g.42457778G>C" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.44380410G>C" "" "pathogenic (recessive)" "" "0001061089" "2" "90" "17" "42461684" "42461684" "subst" "0" "00006" "ITGA2B_000079" "g.42461684C>T" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.44384316C>T" "" "pathogenic (recessive)" "" "0001061102" "3" "90" "17" "42454390" "42454390" "subst" "0" "00006" "ITGA2B_000064" "g.42454390G>C" "" "{PMID:D\'Andrea 2002:12083483}" "" "[2254G>C;2264G>C" "variants in cis, not classified individually" "Germline" "" "" "0" "" "" "g.44377022G>C" "" "pathogenic (!)" "" "0001061103" "3" "90" "17" "42463077" "42463077" "subst" "0" "00006" "ITGA2B_000089" "g.42463077G>A" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.44385709G>A" "" "pathogenic (recessive)" "" "0001061104" "3" "90" "17" "42456045" "42456045" "dup" "0" "00006" "ITGA2B_000067" "g.42456045dup" "" "{PMID:D\'Andrea 2002:12083483}" "" "1912Gins" "" "Germline" "" "" "0" "" "" "g.44378677dup" "" "pathogenic (recessive)" "" "0001061105" "1" "90" "17" "42461953" "42461953" "subst" "0" "00006" "ITGA2B_000081" "g.42461953C>T" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.44384585C>T" "" "pathogenic (recessive)" "" "0001061106" "1" "90" "17" "42461715" "42461715" "dup" "0" "00006" "ITGA2B_000080" "g.42461715dup" "" "{PMID:D\'Andrea 2002:12083483}" "" "855Cins" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44384347dup" "" "pathogenic (recessive)" "" "0001061107" "1" "90" "17" "42462967" "42462967" "subst" "0" "00006" "ITGA2B_000013" "g.42462967G>C" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.44385599G>C" "" "pathogenic (recessive)" "" "0001061108" "1" "90" "17" "42460932" "42460932" "subst" "0" "00006" "ITGA2B_000077" "g.42460932C>T" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44383564C>T" "" "pathogenic (recessive)" "" "0001061109" "1" "90" "17" "42457380" "42457380" "subst" "0" "00006" "ITGA2B_000070" "g.42457380G>T" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44380012G>T" "" "pathogenic (recessive)" "" "0001061110" "3" "90" "17" "42463076" "42463088" "del" "0" "00006" "ITGA2B_000088" "g.42463076_42463088del" "" "{PMID:D\'Andrea 2002:12083483}" "" "IVS3(-3)418del" "" "Germline" "" "" "0" "" "" "g.44385708_44385720del" "" "pathogenic (recessive)" "" "0001061111" "1" "90" "17" "42455140" "42455140" "subst" "4.06157E-6" "00006" "ITGA2B_000035" "g.42455140A>G" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44377772A>G" "" "pathogenic (recessive)" "" "0001061112" "3" "90" "17" "42455140" "42455140" "subst" "4.06157E-6" "00006" "ITGA2B_000035" "g.42455140A>G" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.44377772A>G" "" "pathogenic (recessive)" "" "0001061113" "3" "90" "17" "42453247" "42453247" "del" "0" "00006" "ITGA2B_000061" "g.42453247del" "" "{PMID:D\'Andrea 2002:12083483}" "" "2555Adel" "" "Germline" "" "" "0" "" "" "g.44375879del" "" "pathogenic (recessive)" "" "0001061114" "1" "90" "17" "42452041" "42452041" "subst" "8.13266E-6" "00006" "ITGA2B_000056" "g.42452041G>A" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44374673G>A" "" "pathogenic (recessive)" "" "0001061115" "3" "90" "17" "42460975" "42460975" "subst" "0" "00006" "ITGA2B_000004" "g.42460975G>A" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.44383607G>A" "" "pathogenic (recessive)" "" "0001061116" "1" "90" "17" "42456045" "42456045" "dup" "0" "00006" "ITGA2B_000067" "g.42456045dup" "" "{PMID:D\'Andrea 2002:12083483}" "" "1912Gins" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44378677dup" "" "pathogenic (recessive)" "" "0001061117" "3" "90" "17" "42455140" "42455140" "subst" "4.06157E-6" "00006" "ITGA2B_000035" "g.42455140A>G" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.44377772A>G" "" "pathogenic (recessive)" "" "0001061118" "3" "90" "17" "42462423" "42462423" "dup" "0" "00006" "ITGA2B_000084" "g.42462423dup" "" "{PMID:D\'Andrea 2002:12083483}" "" "693Tins" "" "Germline" "" "" "0" "" "" "g.44385055dup" "" "pathogenic (recessive)" "" "0001061121" "3" "90" "17" "42454380" "42454380" "subst" "4.83901E-6" "00006" "ITGA2B_000063" "g.42454380C>G" "" "{PMID:D\'Andrea 2002:12083483}" "" "[2254G>C;2264G>C" "variants in cis, not classified individually" "Germline" "" "" "0" "" "" "g.44377012C>G" "" "pathogenic (!)" "" "0001061122" "2" "90" "17" "42452040" "42452040" "del" "0" "00006" "ITGA2B_000054" "g.42452040del" "" "{PMID:D\'Andrea 2002:12083483}" "" "2930Gdel" "" "Germline" "" "" "0" "" "" "g.44374672del" "" "pathogenic (recessive)" "" "0001061123" "2" "90" "17" "42458426" "42458426" "subst" "0" "00006" "ITGA2B_000034" "g.42458426A>G" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.44381058A>G" "" "pathogenic (recessive)" "" "0001061124" "2" "90" "17" "42454390" "42454390" "subst" "0" "00006" "ITGA2B_000064" "g.42454390G>C" "" "{PMID:D\'Andrea 2002:12083483}" "" "[2254G>C;2264G>C" "variants in cis, not classified individually" "Germline" "" "" "0" "" "" "g.44377022G>C" "" "pathogenic (!)" "" "0001061125" "2" "90" "17" "42454380" "42454380" "subst" "4.83901E-6" "00006" "ITGA2B_000063" "g.42454380C>G" "" "{PMID:D\'Andrea 2002:12083483}" "" "[2254G>C;2264G>C" "variants in cis, not classified individually" "Germline" "" "" "0" "" "" "g.44377012C>G" "" "pathogenic (!)" "" "0001061135" "3" "90" "17" "42462962" "42462962" "subst" "0" "00006" "ITGA2B_000087" "g.42462962A>T" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44385594A>T" "" "pathogenic (recessive)" "" "0001061136" "1" "90" "17" "42461481" "42461481" "dup" "0" "00006" "ITGA2B_000078" "g.42461481dup" "" "{PMID:Jallu 2010:20020534}" "" "917dupA" "" "Germline" "" "" "0" "" "" "g.44384113dup" "" "pathogenic (recessive)" "" "0001061137" "1" "90" "17" "42458426" "42458426" "subst" "0" "00006" "ITGA2B_000034" "g.42458426A>G" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44381058A>G" "" "pathogenic (recessive)" "" "0001061138" "1" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Jallu 2010:20020534}" "" "1442-13_1442-1del" "" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061139" "1" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Jallu 2010:20020534}" "" "1442-13_1442-1del" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061140" "1" "90" "17" "42457994" "42457994" "subst" "4.06081E-6" "00006" "ITGA2B_000075" "g.42457994G>C" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44380626G>C" "" "pathogenic (recessive)" "" "0001061141" "1" "90" "17" "42457651" "42457651" "subst" "0" "00006" "ITGA2B_000072" "g.42457651A>T" "" "{PMID:Jallu 2010:20020534}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44380283A>T" "" "pathogenic (recessive)" "" "0001061142" "3" "90" "17" "42457450" "42457450" "subst" "0" "00006" "ITGA2B_000071" "g.42457450G>A" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44380082G>A" "" "pathogenic (recessive)" "" "0001061143" "3" "90" "17" "42456080" "42456080" "subst" "0" "00006" "ITGA2B_000068" "g.42456080T>C" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44378712T>C" "" "pathogenic (recessive)" "" "0001061144" "3" "90" "17" "42457057" "42457057" "subst" "0" "00006" "ITGA2B_000069" "g.42457057C>G" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44379689C>G" "" "pathogenic (recessive)" "" "0001061145" "3" "90" "17" "42457148" "42457148" "subst" "6.51604E-5" "00006" "ITGA2B_000038" "g.42457148A>G" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44379780A>G" "" "pathogenic (recessive)" "" "0001061146" "1" "90" "17" "42455140" "42455140" "subst" "4.06157E-6" "00006" "ITGA2B_000035" "g.42455140A>G" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44377772A>G" "" "pathogenic (recessive)" "" "0001061147" "3" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "" "0001061148" "3" "90" "17" "42452452" "42452461" "del" "0" "00006" "ITGA2B_000060" "g.42452452_42452461del" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44375084_44375093del" "" "pathogenic (recessive)" "" "0001061149" "1" "90" "17" "42452407" "42452407" "subst" "0" "00006" "ITGA2B_000059" "g.42452407C>A" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44375039C>A" "" "pathogenic (recessive)" "" "0001061150" "3" "90" "17" "42452100" "42452100" "subst" "0" "00006" "ITGA2B_000058" "g.42452100G>A" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44374732G>A" "" "pathogenic (recessive)" "" "0001061151" "1" "90" "17" "42452041" "42452041" "subst" "8.13266E-6" "00006" "ITGA2B_000056" "g.42452041G>A" "" "{PMID:Jallu 2010:20020534}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44374673G>A" "" "pathogenic (recessive)" "" "0001061152" "1" "90" "17" "42451838" "42451838" "subst" "0" "00006" "ITGA2B_000027" "g.42451838C>T" "" "{PMID:Jallu 2010:20020534}" "" "[2944G>A;2965G>A]" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44374470C>T" "" "pathogenic (recessive)" "" "0001061161" "2" "90" "17" "42456044" "42456044" "dup" "0" "00006" "ITGA2B_000066" "g.42456044dup" "" "{PMID:Jallu 2010:20020534}" "" "1912dupT" "" "Germline" "" "" "0" "" "" "g.44378676dup" "" "pathogenic (recessive)" "" "0001061162" "2" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Jallu 2010:20020534}" "" "1442-13_1442-1del" "" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061163" "2" "90" "17" "42452407" "42452407" "subst" "0" "00006" "ITGA2B_000059" "g.42452407C>A" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44375039C>A" "" "pathogenic (recessive)" "" "0001061164" "2" "90" "17" "42451720" "42451720" "subst" "1.62489E-5" "00006" "ITGA2B_000005" "g.42451720A>G" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.44374352A>G" "" "pathogenic (recessive)" "" "0001061165" "1" "30" "17" "42451817" "42451817" "subst" "0.000617379" "00006" "ITGA2B_000015" "g.42451817C>T" "" "{PMID:Jallu 2010:20020534}" "" "[2944G>A;2965G>A]" "" "Germline" "" "" "0" "" "" "g.44374449C>T" "" "likely benign" "" "0001061169" "3" "90" "17" "42452984" "42452984" "subst" "0" "00006" "ITGA2B_000024" "g.42452984G>T" "" "{PMID:Vinciguerra 1996:8904900}, {PMID:Negrier 1998:9450787}" "" "C>A Ser870stop" "" "Germline" "" "" "0" "" "" "g.44375616G>T" "" "pathogenic (recessive)" "" "0001061171" "11" "90" "17" "42457372" "42457372" "subst" "1.62794E-5" "00006" "ITGA2B_000025" "g.42457372G>A" "" "{PMID:Vinciguerra 1995:8571304}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44380004G>A" "" "pathogenic (recessive)" "" "0001061173" "21" "90" "17" "42456010" "42456010" "subst" "0" "00006" "ITGA2B_000026" "g.42456010C>T" "" "{PMID:Nurden 2004:15099289}" "" "IVS19+1G>A" "" "Germline" "" "" "0" "" "" "g.44378642C>T" "" "pathogenic (recessive)" "" "0001061174" "11" "90" "17" "42451838" "42451838" "subst" "0" "00006" "ITGA2B_000027" "g.42451838C>T" "" "{PMID:Nurden 2004:15099289}" "" "[2944G>A;2965G>A]" "" "Germline" "" "" "0" "" "" "g.44374470C>T" "" "pathogenic (recessive)" "" "0001061175" "11" "30" "17" "42451817" "42451817" "subst" "0.000617379" "00006" "ITGA2B_000015" "g.42451817C>T" "" "{PMID:Nurden 2004:15099289}" "" "[2944G>A;2965G>A]" "" "Germline" "" "" "0" "" "" "g.44374449C>T" "" "likely benign" "" "0001061176" "0" "10" "17" "42451817" "42451817" "subst" "0.000617379" "00006" "ITGA2B_000015" "g.42451817C>T" "" "{PMID:Nurden 2004:15099289}" "" "" "cDNA expression cloning shows no effect on function" "In vitro (cloned)" "" "" "0" "" "" "g.44374449C>T" "" "NA" "" "0001061177" "0" "90" "17" "42451838" "42451838" "subst" "0" "00006" "ITGA2B_000027" "g.42451838C>T" "" "{PMID:Nurden 2004:15099289}" "" "" "cDNA expression cloning shows much reduced surface expression of alpha(IIb)beta(3) and a block in the maturation of pro-alpha(IIb)" "In vitro (cloned)" "" "" "0" "" "" "g.44374470C>T" "" "NA" "" "0001061178" "3" "90" "17" "42462967" "42462967" "subst" "0" "00006" "ITGA2B_000013" "g.42462967G>C" "" "{PMID:Basani 2000:10607701}" "" "C>G Pro145Ala" "" "Germline" "" "" "0" "" "" "g.44385599G>C" "" "pathogenic (recessive)" "" "0001061179" "3" "90" "17" "42462967" "42462967" "subst" "0" "00006" "ITGA2B_000013" "g.42462967G>C" "" "{PMID:Basani 2000:10607701}" "" "C>G Pro145Ala" "" "Germline" "" "" "0" "" "" "g.44385599G>C" "" "pathogenic (recessive)" "" "0001061180" "1" "90" "17" "42462967" "42462967" "subst" "0" "00006" "ITGA2B_000013" "g.42462967G>C" "" "{PMID:Basani 2000:10607701}" "" "C>G Pro145Ala" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44385599G>C" "" "pathogenic (recessive)" "" "0001061181" "2" "90" "17" "42457670" "42457670" "del" "0" "00006" "ITGA2B_000028" "g.42457670del" "" "{PMID:Basani 2000:10607701}" "" "IVS15-1delG" "" "Germline" "" "" "0" "" "" "g.44380302del" "" "pathogenic (recessive)" "" "0001061182" "1" "90" "17" "42462966" "42462966" "subst" "0" "00006" "ITGA2B_000029" "g.42462966G>A" "" "{PMID:Basani 2000:10607701}" "" "C>T Pro145Leu" "" "Germline" "" "" "0" "" "" "g.44385598G>A" "" "pathogenic (recessive)" "" "0001061183" "3" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Tadokoro 1998:9763559}" "" "2334A>C (Gln747Pro" "" "Germline" "" "" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "" "0001061184" "1" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Tadokoro 1998:9763559}" "" "2334A>C (Gln747Pro" "" "Germline" "" "" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "" "0001061185" "2" "90" "17" "42457183" "42457183" "subst" "0" "00006" "ITGA2B_000031" "g.42457183C>T" "" "{PMID:Tadokoro 1998:9763559}" "" "IVS17-1G>A" "" "Germline" "" "" "0" "" "" "g.44379815C>T" "" "pathogenic (recessive)" "" "0001061194" "21" "90" "17" "42461275" "42461275" "subst" "0" "00006" "ITGA2B_000032" "g.42461275C>A" "" "{PMID:Mitchell 2003:12424194}" "" "985G>T Val298Phe" "" "Germline" "" "" "0" "" "" "g.44383907C>A" "" "pathogenic (recessive)" "" "0001061195" "11" "90" "17" "42458408" "42458408" "dup" "0" "00006" "ITGA2B_000033" "g.42458408dup" "" "{PMID:Mitchell 2003:12424194}" "" "1233insA Tyr380*" "" "Germline" "" "" "0" "" "" "g.44381040dup" "" "pathogenic (recessive)" "" "0001061196" "21" "90" "17" "42458426" "42458426" "subst" "0" "00006" "ITGA2B_000034" "g.42458426A>G" "" "{PMID:Mitchell 2003:12424194}" "" "Ile374Thr" "" "Germline" "" "" "0" "" "" "g.44381058A>G" "" "pathogenic (recessive)" "" "0001061197" "11" "90" "17" "42455140" "42455140" "subst" "4.06157E-6" "00006" "ITGA2B_000035" "g.42455140A>G" "" "{PMID:Mitchell 2003:12424194}" "" "Cys674Arg" "" "Germline" "" "" "0" "" "" "g.44377772A>G" "" "pathogenic (recessive)" "" "0001061198" "3" "90" "17" "42455140" "42455140" "subst" "4.06157E-6" "00006" "ITGA2B_000035" "g.42455140A>G" "" "{PMID:Mitchell 2003:12424194}" "" "Cys674Arg" "" "Germline" "" "" "0" "" "" "g.44377772A>G" "" "pathogenic (recessive)" "" "0001061199" "11" "90" "17" "42462652" "42462652" "subst" "0" "00006" "ITGA2B_000036" "g.42462652G>T" "" "{PMID:Gonzalez-Manchon 1999:9920835}" "" "IVS5+2C>A" "mRNA expression strongly reduced (NMD)" "Germline" "" "" "0" "" "" "g.44385284G>T" "" "pathogenic (recessive)" "" "0001061200" "21" "90" "17" "42455140" "42455140" "subst" "4.06157E-6" "00006" "ITGA2B_000035" "g.42455140A>G" "" "{PMID:Gonzalez-Manchon 1999:9920835}" "" "Cys674Arg" "" "Germline" "" "" "0" "" "" "g.44377772A>G" "" "pathogenic (recessive)" "" "0001061201" "21" "90" "17" "42461008" "42461008" "subst" "0" "00006" "ITGA2B_000037" "g.42461008C>T" "" "{PMID:Ruan 1998:9734640}" "" "1064G>A" "" "Germline" "" "" "0" "" "" "g.44383640C>T" "" "pathogenic (recessive)" "" "0001061202" "11" "90" "17" "42457148" "42457148" "subst" "6.51604E-5" "00006" "ITGA2B_000038" "g.42457148A>G" "" "{PMID:Ruan 1998:9734640}" "" "Ile565Thr" "" "Germline" "" "" "0" "" "" "c.1787T>C" "" "pathogenic (recessive)" "" "0001061203" "1" "90" "17" "42457994" "42457994" "subst" "0" "00006" "ITGA2B_000039" "g.42457994G>T" "" "{PMID:Scott 1998:9798966}" "" "C1414>G (Tyr440*)" "" "Germline" "yes" "" "0" "" "" "g.44380626G>T" "" "pathogenic (recessive)" "" "0001061204" "2" "90" "17" "42451767" "42451767" "dup" "0" "00006" "ITGA2B_000040" "g.42451767dup" "" "{PMID:Scott 1998:9798966}" "" "3016insG" "" "Germline" "" "" "0" "" "" "g.44374399dup" "" "pathogenic (recessive)" "" "0001061213" "3" "10" "17" "42449789" "42449789" "subst" "0.38735" "00006" "ITGA2B_000041" "g.42449789G>A" "" "{PMID:Jayo 2010:20081061}" "" "" "" "Germline" "" "" "0" "" "" "g.44372421G>A" "" "benign" "" "0001061214" "3" "10" "17" "42453065" "42453065" "subst" "0.389805" "00006" "ITGA2B_000001" "g.42453065A>C" "" "{PMID:Jayo 2010:20081061}" "" "I843S" "" "Germline" "" "" "0" "" "" "g.44375697A>C" "" "likely benign" "" "0001061215" "3" "10" "17" "42455024" "42455032" "del" "0" "00006" "ITGA2B_000042" "g.42455024_42455032del" "" "{PMID:Jayo 2010:20081061}" "" "IVS21+36delCAGGGGCTC" "" "Germline" "" "" "0" "" "" "g.44377656_44377664del" "" "benign" "" "0001061216" "3" "10" "17" "42454463" "42454463" "subst" "0.38543" "00006" "ITGA2B_000043" "g.42454463G>C" "" "{PMID:Jayo 2010:20081061}" "" "IVS21-7C>G" "" "Germline" "" "" "0" "" "" "g.44377095G>C" "" "benign" "" "0001061217" "3" "10" "17" "42454812" "42454812" "subst" "0" "00006" "ITGA2B_000044" "g.42454812T>C" "" "{PMID:Jayo 2010:20081061}" "" "IVS21+254A>G" "" "Germline" "" "" "0" "" "" "g.44377444T>C" "" "benign" "" "0001061225" "11" "50" "17" "42455875" "42455875" "subst" "6.56928E-5" "00006" "ITGA2B_000045" "g.42455875G>A" "" "{PMID:Peterson 2010:19821948}" "" "T619M" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.44378507G>A" "" "pathogenic (paternal)" "" "0001061238" "11" "50" "17" "42453084" "42453084" "subst" "0.00232268" "00006" "ITGA2B_000046" "g.42453084C>T" "" "{PMID:Noris 1995:7620155}" "" "2603G>A (Val837Met)" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.44375716C>T" "" "pathogenic (paternal)" "" "0001061239" "11" "50" "17" "42453713" "42453713" "subst" "1.21823E-5" "00006" "ITGA2B_000047" "g.42453713C>A" "" "{PMID:Poles 2013:23305224}" "" "V740L" "" "Germline" "" "" "0" "" "" "g.44376345C>A" "" "pathogenic (paternal)" "" "0001061240" "10" "50" "17" "42462694" "42462694" "subst" "0" "00006" "ITGA2B_000048" "g.42462694T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44385326T>G" "" "pathogenic (paternal)" "" "0001061241" "10" "50" "17" "42457790" "42457790" "subst" "3.2501E-5" "00006" "ITGA2B_000049" "g.42457790C>T" "" "" "" "" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.44380422C>T" "" "pathogenic (paternal)" "" "0001061242" "10" "50" "17" "42453072" "42453072" "subst" "0.00139826" "00006" "ITGA2B_000050" "g.42453072G>T" "" "" "" "" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" ".44375704G>T" "" "pathogenic (paternal)" "" "0001061254" "3" "90" "17" "42462703" "42462704" "ins" "0" "00006" "ITGA2B_000051" "g.42462703_42462704insTTGTCC" "" "{PMID:Honda 1998:9739052}" "" "F160_S161insRT" "" "Germline" "" "" "0" "" "" "g.44385335_44385336insTTGTCC" "" "likely pathogenic (recessive)" "" "0001061255" "0" "90" "17" "42462703" "42462704" "ins" "0" "00006" "ITGA2B_000051" "g.42462703_42462704insTTGTCC" "" "{PMID:Kosaka 2025:41349512}" "" "" "in vitro expression analysis shows complete loss of PAC-1 binding, reduced binding to soluble fibrinogen after activation and spreading on fibrinogen-coated plates, affects integrin activation" "In vitro (cloned)" "" "" "0" "" "" "g.44385335_44385336insTTGTCC" "" "NA" "" "0001061257" "3" "90" "17" "42457753" "42457753" "subst" "0" "00006" "ITGA2B_000052" "g.42457753C>T" "" "{PMID:Schlegel 1995:7620188}" "" "" "" "Germline" "yes" "" "0" "" "" "g.44380385C>T" "" "pathogenic (recessive)" "" "0001061258" "3" "90" "17" "42457753" "42457753" "subst" "0" "00006" "ITGA2B_000052" "g.42457753C>T" "" "{PMID:Schlegel 1995:7620188}" "" "" "" "Germline" "" "" "0" "" "" "g.44380385C>T" "" "pathogenic (recessive)" "" "0001061261" "21" "90" "17" "42457753" "42457753" "subst" "0" "00006" "ITGA2B_000052" "g.42457753C>T" "" "{PMID:Robert 2011:21441448}, {PMID:Nurden 2015:25728920}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44380385C>T" "" "pathogenic (recessive)" "" "0001061265" "3" "70" "17" "42453671" "42453671" "subst" "0" "00006" "ITGA2B_000111" "g.42453671C>G" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44376303C>G" "" "likely pathogenic (recessive)" "" "0001061266" "21" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061267" "1" "70" "17" "42460998" "42460998" "subst" "0" "00006" "ITGA2B_000125" "g.42460998C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44383630C>T" "" "likely pathogenic (recessive)" "" "0001061269" "1" "90" "17" "42462433" "42462433" "subst" "0" "00006" "ITGA2B_000085" "g.42462433G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44385065G>A" "" "pathogenic (recessive)" "" "0001061270" "1" "70" "17" "42463070" "42463070" "subst" "0" "00006" "ITGA2B_000135" "g.42463070C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44385702C>A" "" "likely pathogenic (recessive)" "" "0001061271" "1" "70" "17" "42455177" "42455177" "subst" "0" "00006" "ITGA2B_000114" "g.42455177A>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44377809A>T" "" "likely pathogenic (recessive)" "" "0001061272" "1" "70" "17" "42460870" "42460870" "subst" "0" "00006" "ITGA2B_000124" "g.42460870C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44383502C>A" "" "likely pathogenic (recessive)" "" "0001061273" "3" "90" "17" "42457753" "42457753" "subst" "0" "00006" "ITGA2B_000052" "g.42457753C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44380385C>T" "" "pathogenic (recessive)" "" "0001061274" "1" "70" "17" "42452407" "42452407" "subst" "0" "00006" "ITGA2B_000059" "g.42452407C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44375039C>A" "" "likely pathogenic (recessive)" "" "0001061275" "1" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061276" "1" "70" "17" "42463181" "42463181" "subst" "0" "00006" "ITGA2B_000136" "g.42463181G>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44385813G>T" "" "likely pathogenic (recessive)" "" "0001061278" "3" "90" "17" "42457753" "42457753" "subst" "0" "00006" "ITGA2B_000052" "g.42457753C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44380385C>T" "" "pathogenic (recessive)" "" "0001061279" "1" "90" "17" "42457994" "42457994" "subst" "4.06081E-6" "00006" "ITGA2B_000075" "g.42457994G>C" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44380626G>C" "" "pathogenic (recessive)" "" "0001061280" "3" "70" "17" "42460998" "42460998" "subst" "0" "00006" "ITGA2B_000125" "g.42460998C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44383630C>T" "" "likely pathogenic (recessive)" "" "0001061281" "1" "90" "17" "42457994" "42457994" "subst" "4.06081E-6" "00006" "ITGA2B_000075" "g.42457994G>C" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44380626G>C" "" "pathogenic (recessive)" "" "0001061282" "3" "90" "17" "42460860" "42463290" "dup" "0" "00006" "ITGA2B_000123" "g.(42458430_42460860)_(42463290_42463377)dup" "" "{PMID:Nurden 2015:25728920}" "" "dup ex3-12" "" "Germline" "" "" "0" "" "" "g.(44381062_44383492)_(44385922_44386009)dup" "" "pathogenic (recessive)" "" "0001061284" "1" "90" "17" "42457166" "42457166" "dup" "0" "00006" "ITGA2B_000117" "g.42457166dup" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44379798dup" "" "pathogenic (recessive)" "" "0001061286" "1" "70" "17" "42457661" "42457661" "subst" "4.06081E-6" "00006" "ITGA2B_000119" "g.42457661A>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44380293A>T" "" "likely pathogenic (recessive)" "" "0001061288" "1" "70" "17" "42466711" "42466711" "subst" "0" "00006" "ITGA2B_000138" "g.42466711C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44389343C>A" "" "likely pathogenic (recessive)" "" "0001061290" "3" "90" "17" "42456075" "42456075" "subst" "0" "00006" "ITGA2B_000116" "g.42456075G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44378707G>A" "" "pathogenic (recessive)" "" "0001061291" "3" "50" "17" "42461713" "42461713" "subst" "0" "00006" "ITGA2B_000127" "g.42461713A>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44384345A>T" "" "VUS" "" "0001061292" "1" "90" "17" "42466753" "42466753" "del" "0" "00006" "ITGA2B_000139" "g.42466753del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44389385del" "" "pathogenic (recessive)" "" "0001061293" "3" "90" "17" "42455105" "42455105" "dup" "0" "00006" "ITGA2B_000113" "g.42455105dup" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44377737dup" "" "pathogenic (recessive)" "" "0001061295" "3" "90" "17" "42458283" "42458283" "subst" "0" "00006" "ITGA2B_000120" "g.42458283G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44380915G>A" "" "pathogenic (recessive)" "" "0001061296" "1" "90" "17" "42462577" "42462943" "del" "0" "00006" "ITGA2B_000131" "g.42462577_42462943del" "" "{PMID:Nurden 2015:25728920}" "" "550_625del" "" "Germline" "" "" "0" "" "" "g.44385209_44385575del" "" "pathogenic (recessive)" "" "0001061297" "1" "90" "17" "42461924" "42461924" "del" "0" "00006" "ITGA2B_000128" "g.42461924del" "" "{PMID:Nurden 2015:25728920}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44384556del" "" "pathogenic (recessive)" "" "0001061299" "1" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061302" "3" "70" "17" "42462677" "42462677" "subst" "0" "00006" "ITGA2B_000132" "g.42462677C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44385309C>T" "" "likely pathogenic (recessive)" "" "0001061305" "3" "70" "17" "42462555" "42462555" "subst" "0" "00006" "ITGA2B_000130" "g.42462555G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44385187G>A" "" "likely pathogenic (recessive)" "" "0001061306" "1" "70" "17" "42462922" "42462922" "subst" "0" "00006" "ITGA2B_000134" "g.42462922A>C" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44385554A>C" "" "likely pathogenic (recessive)" "" "0001061307" "3" "70" "17" "42462677" "42462677" "subst" "0" "00006" "ITGA2B_000132" "g.42462677C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44385309C>T" "" "likely pathogenic (recessive)" "" "0001061311" "1" "70" "17" "42463431" "42463431" "subst" "0" "00006" "ITGA2B_000137" "g.42463431A>G" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44386063A>G" "" "likely pathogenic (recessive)" "" "0001061312" "1" "90" "17" "42462918" "42462918" "subst" "5.55648E-6" "00006" "ITGA2B_000133" "g.42462918C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44385550C>T" "" "pathogenic (recessive)" "" "0001061313" "3" "90" "17" "42456080" "42456080" "subst" "0" "00006" "ITGA2B_000068" "g.42456080T>C" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44378712T>C" "" "pathogenic (recessive)" "" "0001061314" "1" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061315" "1" "90" "17" "42457994" "42457994" "subst" "4.06081E-6" "00006" "ITGA2B_000075" "g.42457994G>C" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44380626G>C" "" "pathogenic (recessive)" "" "0001061316" "3" "70" "17" "42457057" "42457057" "subst" "0" "00006" "ITGA2B_000069" "g.42457057C>G" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44379689C>G" "" "likely pathogenic (recessive)" "" "0001061318" "3" "70" "17" "42451831" "42451831" "subst" "0" "00006" "ITGA2B_000105" "g.42451831G>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44374463G>T" "" "likely pathogenic (recessive)" "" "0001061320" "1" "50" "17" "42458426" "42458426" "subst" "0" "00006" "ITGA2B_000034" "g.42458426A>G" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44381058A>G" "" "VUS" "" "0001061321" "3" "50" "17" "42449567" "42449567" "subst" "0" "00006" "ITGA2B_000101" "g.42449567A>G" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44372199A>G" "" "VUS" "" "0001061322" "3" "90" "17" "42453480" "42453480" "subst" "0" "00006" "ITGA2B_000110" "g.42453480C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44376112C>T" "" "pathogenic (recessive)" "" "0001061325" "1" "70" "17" "42466711" "42466711" "subst" "0" "00006" "ITGA2B_000138" "g.42466711C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44389343C>A" "" "likely pathogenic (recessive)" "" "0001061326" "3" "90" "17" "42456075" "42456075" "subst" "0" "00006" "ITGA2B_000116" "g.42456075G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44378707G>A" "" "pathogenic (recessive)" "" "0001061327" "1" "90" "17" "42466753" "42466753" "del" "0" "00006" "ITGA2B_000139" "g.42466753del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44389385del" "" "pathogenic (recessive)" "" "0001061329" "1" "70" "17" "42466711" "42466711" "subst" "0" "00006" "ITGA2B_000138" "g.42466711C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44389343C>A" "" "likely pathogenic (recessive)" "" "0001061334" "11" "70" "17" "42449775" "42449775" "subst" "4.06246E-6" "00006" "ITGA2B_000102" "g.42449775C>T" "" "{PMID:Perichaud 1998:9834222}, {PMID:Nurden 2015:25728920}" "" "3078G>A R995Q" "" "Germline" "" "" "0" "" "" "g.44372407C>T" "" "likely pathogenic (recessive)" "" "0001061335" "2" "70" "17" "42458406" "42458406" "subst" "3.29115E-5" "00006" "ITGA2B_000122" "g.42458406C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44381038C>T" "" "likely pathogenic (recessive)" "" "0001061336" "2" "90" "17" "42457372" "42457372" "subst" "1.62794E-5" "00006" "ITGA2B_000025" "g.42457372G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44380004G>A" "" "pathogenic (recessive)" "" "0001061337" "2" "90" "17" "42452068" "42452068" "del" "0" "00006" "ITGA2B_000106" "g.42452068del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44374700del" "" "pathogenic (recessive)" "" "0001061338" "2" "90" "17" "42452437" "42452437" "subst" "0" "00006" "ITGA2B_000108" "g.42452437G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44375069G>A" "" "pathogenic (recessive)" "" "0001061339" "2" "70" "17" "42452407" "42452407" "subst" "0" "00006" "ITGA2B_000059" "g.42452407C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44375039C>A" "" "likely pathogenic (recessive)" "" "0001061340" "2" "70" "17" "42452106" "42452106" "subst" "0" "00006" "ITGA2B_000107" "g.42452106A>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44374738A>T" "" "likely pathogenic (recessive)" "" "0001061341" "2" "70" "17" "42458381" "42458381" "subst" "0" "00006" "ITGA2B_000121" "g.42458381A>G" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44381013A>G" "" "likely pathogenic (recessive)" "" "0001061342" "2" "90" "17" "42456075" "42456075" "subst" "0" "00006" "ITGA2B_000116" "g.42456075G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44378707G>A" "" "pathogenic (recessive)" "" "0001061343" "2" "70" "17" "42453334" "42453334" "subst" "0" "00006" "ITGA2B_000109" "g.42453334C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44375966C>T" "" "likely pathogenic (recessive)" "" "0001061344" "2" "90" "17" "42449792" "42449792" "subst" "0" "00006" "ITGA2B_000103" "g.42449792C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44372424C>T" "" "pathogenic (recessive)" "" "0001061346" "2" "90" "17" "42456008" "42456008" "subst" "0" "00006" "ITGA2B_000115" "g.42456008C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44378640C>A" "" "pathogenic (recessive)" "" "0001061348" "0" "70" "17" "42454380" "42454380" "subst" "5.80681E-5" "00006" "ITGA2B_000112" "g.42454380C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44377012C>T" "" "likely pathogenic (recessive)" "" "0001061349" "2" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061351" "2" "90" "17" "42452059" "42452059" "dup" "0" "00006" "ITGA2B_000019" "g.42452059dup" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44374691dup" "" "pathogenic (recessive)" "" "0001061353" "2" "90" "17" "42462531" "42462704" "del" "0" "00006" "ITGA2B_000129" "g.(42462445_42462531)_(42462704_42462918)del" "" "{PMID:Nurden 2015:25728920}" "" "del ex5-6" "" "Germline" "" "" "0" "" "" "g.(44385077_44385163)_(44385336_44385550)del" "" "pathogenic (recessive)" "" "0001061355" "2" "70" "17" "42455140" "42455140" "subst" "4.06157E-6" "00006" "ITGA2B_000035" "g.42455140A>G" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44377772A>G" "" "likely pathogenic (recessive)" "" "0001061359" "2" "70" "17" "42461299" "42461299" "subst" "0" "00006" "ITGA2B_000126" "g.42461299C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44383931C>A" "" "likely pathogenic (recessive)" "" "0001061360" "2" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061361" "2" "90" "17" "42456008" "42456008" "subst" "0" "00006" "ITGA2B_000115" "g.42456008C>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44378640C>A" "" "pathogenic (recessive)" "" "0001061362" "2" "90" "17" "42457504" "42457504" "subst" "0" "00006" "ITGA2B_000118" "g.42457504G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44380136G>A" "" "pathogenic (recessive)" "" "0001061363" "2" "90" "17" "42451721" "42453757" "del" "0" "00006" "ITGA2B_000104" "g.(42449792_42451721)_(42453757_42454376)del" "" "{PMID:Nurden 2015:25728920}" "" "del ex23-29" "" "Germline" "" "" "0" "" "" "g.(44372424_44374353)_(44376389_44377008)del" "" "pathogenic (recessive)" "" "0001061364" "2" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061367" "0" "70" "17" "42454380" "42454380" "subst" "5.80681E-5" "00006" "ITGA2B_000112" "g.42454380C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44377012C>T" "" "likely pathogenic (recessive)" "" "0001061368" "2" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061369" "2" "90" "17" "42457859" "42457871" "del" "0" "00006" "ITGA2B_000074" "g.42457859_42457871del" "" "{PMID:Nurden 2015:25728920}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.44380491_44380503del" "" "pathogenic (recessive)" "" "0001061370" "2" "90" "17" "42452059" "42452059" "dup" "0" "00006" "ITGA2B_000019" "g.42452059dup" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.44374691dup" "" "pathogenic (recessive)" "" "0001061372" "0" "90" "17" "42462677" "42462677" "subst" "0" "00006" "ITGA2B_000132" "g.42462677C>T" "" "{PMID:Kosaka 2025:41349512}," "" "" "in vitro expression analysis shows abolished αIIb surface expression; authors suggest classification of variant as \"pathogenic\"" "In vitro (cloned)" "" "" "0" "" "" "g.44385309C>T" "" "NA" "" "0001061373" "0" "90" "17" "42462676" "42462676" "subst" "4.10041E-6" "00006" "ITGA2B_000140" "g.42462676C>G" "" "{PMID:Kosaka 2025:41349512}" "" "" "in vitro expression analysis shows abolished αIIb and β3 surface expression and no \r\nPAC-1 binding following activation; authors suggest classification of variant as \"pathogenic\"" "In vitro (cloned)" "" "" "0" "" "" "g.44385308C>G" "" "NA" "" "0001061374" "0" "10" "17" "42462679" "42462679" "subst" "0" "00006" "ITGA2B_000141" "g.42462679G>A" "" "{PMID:Kosaka 2025:41349512}" "" "" "in vitro expression analysis shows normal αIIb and β3 surface expression and normal PAC-1 binding following activation" "In vitro (cloned)" "" "" "0" "" "" "g.44385311G>A" "" "NA" "" "0001061375" "0" "70" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Kosaka 2025:41349512}" "" "" "in vitro expression analysis shows intermediate αIIb surface expression, very low to undetectable β3 surface expression, markedly impaired PAC-1 binding" "In vitro (cloned)" "" "" "0" "" "" "g.44376323T>G" "" "NA" "" "0001061376" "0" "70" "17" "42453694" "42453694" "subst" "0" "00006" "ITGA2B_000142" "g.42453694G>T" "" "{PMID:Kosaka 2025:41349512}" "" "" "in vitro expression analysis shows intermediate αIIb surface expression, very low to undetectable β3 surface expression, markedly impaired PAC-1 binding; ; authors suggest classification of variant as \"likely pathogenic\"" "In vitro (cloned)" "" "" "0" "" "" "g.44376326G>T" "" "NA" "" "0001061417" "21" "30" "17" "42449789" "42449789" "subst" "0.38735" "00006" "ITGA2B_000041" "g.42449789G>A" "" "{PMID:Perichaud 1998:9834222}" "" "3064" "" "Germline" "" "" "0" "" "" "g.44372421G>A" "" "likely benign" "" "0001061418" "21" "30" "17" "42453065" "42453065" "subst" "0.389805" "00006" "ITGA2B_000001" "g.42453065A>C" "" "{PMID:Perichaud 1998:9834222}" "" "" "" "Germline" "" "" "0" "" "" "g.44375697A>C" "" "likely benign" "" "0001061419" "21" "30" "17" "42455024" "42455032" "del" "0" "00006" "ITGA2B_000042" "g.42455024_42455032del" "" "{PMID:Perichaud 1995:8555087}, {PMID:Perichaud 1998:9834222}" "" "21i del9" "" "Germline" "" "" "0" "" "" "g.44377656_44377664del" "" "likely benign" "" "0001061425" "1" "90" "17" "42461020" "42461020" "subst" "0" "00006" "ITGA2B_000162" "g.42461020G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM1, PM2, PM4" "Germline" "" "rs1032879686" "0" "" "" "g.44383652G>A" "" "pathogenic (recessive)" "ACMG" "0001061426" "1" "90" "17" "42457372" "42457372" "subst" "1.62794E-5" "00006" "ITGA2B_000025" "g.42457372G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM4, PS3; no variant second chromosome" "Germline" "" "rs137852906" "0" "" "" "g.44380004G>A" "" "pathogenic (recessive)" "ACMG" "0001061427" "1" "90" "17" "42457372" "42457372" "subst" "1.62794E-5" "00006" "ITGA2B_000025" "g.42457372G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM4, PS3; no variant second chromosome" "Germline" "" "rs137852906" "0" "" "" "g.44380004G>A" "" "pathogenic (recessive)" "ACMG" "0001061428" "3" "90" "17" "42453015" "42453015" "subst" "0" "00006" "ITGA2B_000145" "g.42453015G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM4, PS3" "Germline" "" "rs200846140" "0" "" "" "g.44375647G>A" "" "pathogenic (recessive)" "ACMG" "0001061429" "1" "90" "17" "42457372" "42457372" "subst" "1.62794E-5" "00006" "ITGA2B_000025" "g.42457372G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PS3, PM4" "Germline" "" "rs137852906" "0" "" "" "g.44380004G>A" "" "pathogenic (recessive)" "ACMG" "0001061430" "1" "70" "17" "42461941" "42461941" "subst" "0" "00006" "ITGA2B_000167" "g.42461941G>C" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.44384573G>C" "" "likely pathogenic (recessive)" "ACMG" "0001061431" "3" "70" "17" "42457470" "42457470" "subst" "1.63789E-5" "00006" "ITGA2B_000158" "g.42457470C>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP5" "Germline" "" "rs769405222" "0" "" "" "g.44380102C>T" "" "likely pathogenic (recessive)" "ACMG" "0001061432" "1" "70" "17" "42457471" "42457471" "subst" "0" "00006" "ITGA2B_000159" "g.42457471G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP5" "Germline" "" "" "0" "" "" "g.44380103G>A" "" "likely pathogenic (recessive)" "ACMG" "0001061433" "3" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PM3" "Germline" "" "rs74475415" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "ACMG" "0001061434" "3" "90" "17" "42454408" "42454408" "subst" "0" "00006" "ITGA2B_000151" "g.42454408C>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM1, PM2, PM4" "Germline" "" "" "0" "" "" "g.44377040C>A" "" "pathogenic (recessive)" "ACMG" "0001061436" "1" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PM3; no variant second chromosome" "Germline" "" "rs74475415" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "ACMG" "0001061437" "3" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PM3" "Germline" "" "rs74475415" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "ACMG" "0001061440" "1" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PM3" "Germline" "" "rs74475415" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "ACMG" "0001061441" "1" "90" "17" "42462314" "42462314" "subst" "0" "00006" "ITGA2B_000169" "g.42462314A>G" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM3, PP3" "Germline" "" "" "0" "" "" "g.44384946A>G" "" "pathogenic (recessive)" "ACMG" "0001061442" "3" "90" "17" "42453015" "42453015" "subst" "0" "00006" "ITGA2B_000145" "g.42453015G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM4, PS3" "Germline" "" "rs200846140" "0" "" "" "g.44375647G>A" "" "pathogenic (recessive)" "ACMG" "0001061443" "3" "90" "17" "42453015" "42453015" "subst" "0" "00006" "ITGA2B_000145" "g.42453015G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PS3, PM4" "Germline" "" "rs200846140" "0" "" "" "g.44375647G>A" "" "pathogenic (recessive)" "ACMG" "0001061444" "3" "70" "17" "42458406" "42458406" "subst" "3.29115E-5" "00006" "ITGA2B_000122" "g.42458406C>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "rs780786843" "0" "" "" "g.44381038C>T" "" "likely pathogenic (recessive)" "ACMG" "0001061445" "3" "90" "17" "42456075" "42456075" "subst" "0" "00006" "ITGA2B_000116" "g.42456075G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PS3, PM4" "Germline" "" "" "0" "" "" "g.44378707G>A" "" "pathogenic (recessive)" "ACMG" "0001061446" "3" "90" "17" "42456075" "42456075" "subst" "0" "00006" "ITGA2B_000116" "g.42456075G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PS3, PM4" "Germline" "" "" "0" "" "" "g.44378707G>A" "" "pathogenic (recessive)" "ACMG" "0001061447" "1" "90" "17" "42457372" "42457372" "subst" "1.62794E-5" "00006" "ITGA2B_000025" "g.42457372G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM4, PS3; no variant second chromosome" "Germline" "" "rs200846140" "0" "" "" "g.44380004G>A" "" "pathogenic (recessive)" "ACMG" "0001061449" "1" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PM3" "Germline" "" "rs74475415" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "ACMG" "0001061451" "1" "90" "17" "42453015" "42453015" "subst" "0" "00006" "ITGA2B_000145" "g.42453015G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PS3, PM4" "Germline" "" "rs200846140" "0" "" "" "g.44375647G>A" "" "pathogenic (recessive)" "ACMG" "0001061452" "1" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PM3; no variant second chromosome" "Germline" "" "rs74475415" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "ACMG" "0001061454" "3" "90" "17" "42457372" "42457372" "subst" "1.62794E-5" "00006" "ITGA2B_000025" "g.42457372G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PS3, PM4" "Germline" "" "rs200846140" "0" "" "" "g.44380004G>A" "" "pathogenic (recessive)" "ACMG" "0001061455" "1" "70" "17" "42453694" "42453694" "subst" "0" "00006" "ITGA2B_000142" "g.42453694G>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.44376326G>T" "" "likely pathogenic (recessive)" "ACMG" "0001061456" "1" "70" "17" "42461049" "42461049" "subst" "0" "00006" "ITGA2B_000164" "g.42461049G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.44383681G>A" "" "likely pathogenic (recessive)" "ACMG" "0001061457" "1" "70" "17" "42461684" "42461684" "subst" "0" "00006" "ITGA2B_000079" "g.42461684C>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "rs753264426" "0" "" "" "g.44384316C>T" "" "likely pathogenic (recessive)" "ACMG" "0001061459" "1" "90" "17" "42463061" "42463061" "subst" "0" "00006" "ITGA2B_000175" "g.42463061C>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM2, PM3, PM4; no variant second chromosome" "Germline" "" "" "0" "" "" "g.44385693C>T" "" "pathogenic (recessive)" "ACMG" "0001061460" "1" "90" "17" "42462578" "42462578" "subst" "0" "00006" "ITGA2B_000172" "g.42462578C>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM3, PP3" "Germline" "" "" "0" "" "" "g.44385210C>T" "" "pathogenic (recessive)" "ACMG" "0001061462" "3" "90" "17" "42455831" "42455831" "subst" "0" "00006" "ITGA2B_000155" "g.42455831G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM2, PM3, PM4" "Germline" "" "" "0" "" "" "g.44378463G>A" "" "pathogenic (recessive)" "ACMG" "0001061463" "1" "90" "17" "42453077" "42453077" "del" "0" "00006" "ITGA2B_000146" "g.42453077del" "" "{PMID:Zhou 2018:29675921}" "" "2613delG" "ACMG PVS1, PM1, PM2, PM4" "Germline" "" "" "0" "" "" "g.44375709del" "" "pathogenic (recessive)" "ACMG" "0001061464" "1" "70" "17" "42453232" "42453232" "subst" "0" "00006" "ITGA2B_000148" "g.42453232C>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.44375864C>A" "" "likely pathogenic (recessive)" "ACMG" "0001061465" "1" "90" "17" "42457372" "42457372" "subst" "1.62794E-5" "00006" "ITGA2B_000025" "g.42457372G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM4, PS3" "Germline" "" "rs200846140" "0" "" "" "g.44380004G>A" "" "pathogenic (recessive)" "ACMG" "0001061468" "2" "70" "17" "42455795" "42455795" "subst" "0" "00006" "ITGA2B_000154" "g.42455795C>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PP3, PM1, PM2, PP2" "Germline" "" "" "0" "" "" "g.44378427C>T" "" "likely pathogenic (recessive)" "ACMG" "0001061469" "2" "70" "17" "42455094" "42455094" "subst" "0" "00006" "ITGA2B_000153" "g.42455094A>G" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.44377726A>G" "" "likely pathogenic (recessive)" "ACMG" "0001061470" "2" "70" "17" "42455081" "42455081" "subst" "0" "00006" "ITGA2B_000152" "g.42455081C>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.44377713C>T" "" "likely pathogenic (recessive)" "ACMG" "0001061471" "2" "90" "17" "42454408" "42454408" "subst" "0" "00006" "ITGA2B_000151" "g.42454408C>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM1, PM2, PM4" "Germline" "" "" "0" "" "" "g.44377040C>A" "" "pathogenic (recessive)" "ACMG" "0001061475" "2" "90" "17" "42454376" "42454376" "subst" "0" "00006" "ITGA2B_000150" "g.42454376C>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.44377008C>A" "" "pathogenic (recessive)" "ACMG" "0001061476" "2" "90" "17" "42453015" "42453015" "subst" "0" "00006" "ITGA2B_000145" "g.42453015G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PS1, PM4" "Germline" "" "rs200846140" "0" "" "" "g.44375647G>A" "" "pathogenic (recessive)" "ACMG" "0001061478" "2" "90" "17" "42457372" "42457372" "subst" "1.62794E-5" "00006" "ITGA2B_000025" "g.42457372G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM4, PS3" "Germline" "" "rs200846140" "0" "" "" "g.44380004G>A" "" "pathogenic (recessive)" "ACMG" "0001061479" "2" "90" "17" "42453691" "42453691" "subst" "8.12143E-6" "00006" "ITGA2B_000030" "g.42453691T>G" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PM3" "Germline" "" "rs74475415" "0" "" "" "g.44376323T>G" "" "pathogenic (recessive)" "ACMG" "0001061481" "2" "50" "17" "42453087" "42453087" "subst" "5.68046E-6" "00006" "ITGA2B_000147" "g.42453087G>C" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM3, PP3, PP5" "Germline" "" "" "0" "" "" "g.44375719G>C" "" "VUS" "ACMG" "0001061483" "2" "90" "17" "42463031" "42463033" "del" "4.07637E-6" "00006" "ITGA2B_000174" "g.42463031_42463033del" "" "{PMID:Zhou 2018:29675921}" "" "460_462delGAG" "ACMG PVS1, PM1, PM2" "Germline" "" "" "0" "" "" "g.44385663_44385665del" "" "pathogenic (recessive)" "ACMG" "0001061484" "2" "70" "17" "42462543" "42462543" "subst" "4.06478E-6" "00006" "ITGA2B_000170" "g.42462543T>C" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.44385175T>C" "" "likely pathogenic (recessive)" "ACMG" "0001061486" "2" "70" "17" "42457166" "42457166" "subst" "5.70609E-5" "00006" "ITGA2B_000157" "g.42457166C>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "rs747930676" "0" "" "" "g.44379798C>T" "" "likely pathogenic (recessive)" "ACMG" "0001061487" "2" "70" "17" "42461298" "42461298" "subst" "0" "00006" "ITGA2B_000165" "g.42461298C>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.44383930C>A" "" "likely pathogenic (recessive)" "ACMG" "0001061502" "3" "70" "17" "42461043" "42461043" "subst" "0" "00006" "ITGA2B_000163" "g.42461043A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44383675A>G" "" "likely pathogenic (recessive)" "" "0001061505" "0" "90" "17" "42462561" "42462561" "subst" "0" "00006" "ITGA2B_000171" "g.42462561A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44385193A>G" "" "pathogenic (recessive)" "" "0001061506" "1" "50" "17" "42466646" "42466646" "del" "4.06577E-5" "00006" "ITGA2B_000176" "g.42466646del" "" "{PMID:Kannan 2009:19691478}" "" "188+8delG" "" "Germline" "" "" "0" "" "" "g.44389278del" "" "VUS" "" "0001061507" "3" "90" "17" "42457183" "42457183" "subst" "0" "00006" "ITGA2B_000031" "g.42457183C>T" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44379815C>T" "" "pathogenic (recessive)" "" "0001061508" "11" "90" "17" "42452059" "42452059" "dup" "0" "00006" "ITGA2B_000019" "g.42452059dup" "" "{PMID:Kannan 2009:19691478}" "" "2915_2916insC" "" "Germline" "" "" "0" "" "" "g.44374691dup" "" "pathogenic (recessive)" "" "0001061509" "3" "70" "17" "42461461" "42461461" "subst" "4.07445E-6" "00006" "ITGA2B_000166" "g.42461461C>T" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44384093C>T" "" "likely pathogenic (recessive)" "" "0001061511" "3" "90" "17" "42457980" "42457983" "dup" "0" "00006" "ITGA2B_000160" "g.42457980_42457983dup" "" "{PMID:Kannan 2009:19691478}" "" "1424_1427dupAGGT" "" "Germline" "" "" "0" "" "" "g.44380612_44380615dup" "" "pathogenic (recessive)" "" "0001061512" "11" "90" "17" "42461955" "42461955" "subst" "0" "00006" "ITGA2B_000168" "g.42461955T>A" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44384587T>A" "" "pathogenic (recessive)" "" "0001061514" "0" "90" "17" "42462561" "42462561" "subst" "0" "00006" "ITGA2B_000171" "g.42462561A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44385193A>G" "" "pathogenic (recessive)" "" "0001061519" "11" "90" "17" "42456041" "42456042" "del" "0" "00006" "ITGA2B_000156" "g.42456041_42456042del" "" "{PMID:Kannan 2009:19691478}" "" "1919_1920delTG" "" "Germline" "" "" "0" "" "" "g.44378673_44378674del" "" "pathogenic (recessive)" "" "0001061520" "0" "90" "17" "42458406" "42458406" "subst" "3.29115E-5" "00006" "ITGA2B_000122" "g.42458406C>T" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44381038C>T" "" "pathogenic (recessive)" "" "0001061521" "0" "90" "17" "42453687" "42453687" "del" "0" "00006" "ITGA2B_000149" "g.42453687del" "" "{PMID:Kannan 2009:19691478}" "" "2338delG" "" "Germline" "" "" "0" "" "" "g.44376319del" "" "pathogenic (recessive)" "" "0001061524" "0" "90" "17" "42460998" "42460998" "subst" "0" "00006" "ITGA2B_000125" "g.42460998C>T" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44383630C>T" "" "pathogenic (recessive)" "" "0001061525" "0" "90" "17" "42449734" "42449738" "dup" "0" "00006" "ITGA2B_000143" "g.42449734_42449738dup" "" "{PMID:Kannan 2009:19691478}" "" "3117_3118insTGGAG" "" "Germline" "" "" "0" "" "" "g.44372366_44372370dup" "" "pathogenic (recessive)" "" "0001061527" "3" "70" "17" "42461043" "42461043" "subst" "0" "00006" "ITGA2B_000163" "g.42461043A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44383675A>G" "" "likely pathogenic (recessive)" "" "0001061528" "1" "70" "17" "42461043" "42461043" "subst" "0" "00006" "ITGA2B_000163" "g.42461043A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "in cis with “promoter variant g.951G>A” (location not clear)" "Germline" "" "" "0" "" "" "g.44383675A>G" "" "likely pathogenic (recessive)" "" "0001061530" "0" "90" "17" "42462934" "42462934" "del" "4.78085E-6" "00006" "ITGA2B_000173" "g.42462934del" "" "{PMID:Kannan 2009:19691478}" "" "559delG" "" "Germline" "" "" "0" "" "" "g.44385566del" "" "pathogenic (recessive)" "" "0001061531" "0" "90" "17" "42456041" "42456042" "del" "0" "00006" "ITGA2B_000156" "g.42456041_42456042del" "" "{PMID:Kannan 2009:19691478}" "" "1919_1920delTG" "" "Germline" "" "" "0" "" "" "g.44378673_44378674del" "" "pathogenic (recessive)" "" "0001061532" "0" "90" "17" "42462561" "42462561" "subst" "0" "00006" "ITGA2B_000171" "g.42462561A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44385193A>G" "" "pathogenic (recessive)" "" "0001061533" "1" "70" "17" "42461043" "42461043" "subst" "0" "00006" "ITGA2B_000163" "g.42461043A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44383675A>G" "" "likely pathogenic (recessive)" "" "0001061534" "1" "90" "17" "42453013" "42453014" "dup" "0" "00006" "ITGA2B_000144" "g.42453013_42453014dup" "" "{PMID:Kannan 2009:19691478}" "" "2674_2675insGA" "in cis with “promoter variant g.951G>A” (location not clear)" "Germline" "" "" "0" "" "" "g.44375645_44375646dup" "" "pathogenic (recessive)" "" "0001061537" "21" "70" "17" "42461043" "42461043" "subst" "0" "00006" "ITGA2B_000163" "g.42461043A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.44383675A>G" "" "likely pathogenic (recessive)" "" "0001061538" "21" "70" "17" "42460857" "42460857" "subst" "0" "00006" "ITGA2B_000161" "g.42460857T>C" "" "{PMID:Kannan 2009:19691478}" "" "" "in cis with “promoter variant g.951G>A” (location not clear)" "Germline" "" "" "0" "" "" "g.44383489T>C" "" "likely pathogenic (recessive)" "" "0001061540" "2" "90" "17" "42457980" "42457983" "dup" "0" "00006" "ITGA2B_000160" "g.42457980_42457983dup" "" "{PMID:Kannan 2009:19691478}" "" "1424_1427dupAGGT" "" "Germline" "" "" "0" "" "" "g.44380612_44380615dup" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ITGA2B ## Count = 280 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "0000251885" "00010183" "30" "2621" "0" "2621" "0" "c.2621T>G" "r.(?)" "p.(Ile874Ser)" "" "" "0000254571" "00010183" "30" "2297" "0" "2297" "0" "c.2297T>C" "r.(?)" "p.(Ile766Thr)" "" "" "0000341667" "00010183" "90" "3076" "0" "3076" "0" "c.3076C>T" "r.(?)" "p.(Arg1026Trp)" "" "" "0000342739" "00010183" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Ter)" "" "" "0000561931" "00010183" "90" "3060" "2" "3060" "2" "c.3060+2T>C" "r.spl?" "p.?" "" "" "0000561932" "00010183" "50" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Trp)" "" "" "0000561933" "00010183" "30" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Leu163=)" "" "" "0000561934" "00010183" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Ala153Thr)" "" "" "0000726452" "00010183" "90" "1752" "2" "1752" "2" "c.1752+2T>C" "r.spl?" "p.?" "" "" "0000808041" "00010183" "90" "3060" "2" "3060" "2" "c.3060+2T>C" "r.spl?" "p.?" "" "" "0000854947" "00010183" "30" "2916" "0" "2916" "0" "c.2916G>A" "r.(?)" "p.(Pro972=)" "" "" "0000854948" "00010183" "50" "1649" "0" "1649" "0" "c.1649G>A" "r.(?)" "p.(Arg550Gln)" "" "" "0000854949" "00010183" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Pro176Ala)" "" "" "0000865311" "00010183" "30" "1545" "-8" "1545" "-8" "c.1545-8C>A" "r.(=)" "p.(=)" "" "" "0000865312" "00010183" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Pro176Ala)" "" "" "0000893960" "00010183" "50" "1670" "0" "1670" "0" "c.1670C>G" "r.(?)" "p.(Ser557Cys)" "" "" "0000926516" "00010183" "30" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Ala989Thr)" "" "" "0000926517" "00010183" "30" "2511" "0" "2511" "0" "c.2511G>C" "r.(?)" "p.(Gln837His)" "" "" "0000971530" "00010183" "90" "2267" "2" "2267" "2" "c.2267+2T>C" "r.(?)" "p.(?)" "" "" "0000971531" "00010183" "90" "2758" "0" "2759" "0" "c.2758_2759del" "r.(?)" "p.(Gln920ValfsTer2)" "" "" "0000982544" "00010183" "90" "2915" "0" "2915" "0" "c.2915dup" "r.(?)" "p.(Leu973Alafs*63)" "" "" "0000982545" "00010183" "70" "2348" "1" "2348" "1" "c.2348+1G>C" "r.spl?" "p.?" "" "" "0000982546" "00010183" "90" "1752" "2" "1752" "2" "c.1752+2T>C" "r.spl?" "p.?" "" "" "0000982547" "00010183" "10" "439" "0" "439" "0" "c.439C>G" "r.(?)" "p.(Leu147Val)" "" "" "0001003315" "00010183" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Leu1031Argfs*?)" "" "" "0001056044" "00010183" "50" "2019" "0" "2019" "0" "c.2019G>C" "r.(?)" "p.(Glu673Asp)" "" "" "0001061043" "00010183" "90" "409" "-3" "418" "0" "c.409-3_418del" "r.409_426del" "p.Ala137_Gln142del" "3i_4" "" "0001061044" "00010183" "90" "409" "-3" "418" "0" "c.409-3_418del" "r.409_426del" "p.Ala137_Gln142del" "3i_4" "" "0001061045" "00010183" "90" "409" "-3" "418" "0" "c.409-3_418del" "r.409_426del" "p.Ala137_Gln142del" "3i_4" "" "0001061052" "00010183" "90" "2459" "0" "2459" "0" "c.2459del" "r.(?)" "p.(Asn820MetfsTer6)" "25" "" "0001061053" "00010183" "90" "245" "0" "245" "0" "c.245dup" "r.(?)" "p.(Gly83ArgfsTer20)" "2" "" "0001061054" "00010183" "90" "2015" "0" "2015" "0" "c.2015del" "r.(?)" "p.(Gly672AlafsTer23)" "20" "" "0001061055" "00010183" "50" "625" "-22" "625" "-22" "c.625-22A>C" "r.(624_625ins625-14_625-1)" "p.?" "5i" "" "0001061056" "00010183" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Ala139Val)" "4" "" "0001061057" "00010183" "90" "2898" "0" "2902" "0" "c.2898_2902dup" "r.[2842_2943del,2898_2902dup]" "p.[Arg948_Gln981del,Tyr968SerfsTer?]" "28" "" "0001061058" "00010183" "90" "2929" "0" "2930" "0" "c.2929_2930del" "r.(?)" "p.(Glu979SerfsTer56)" "28" "" "0001061059" "00010183" "90" "800" "-2" "800" "-2" "c.800-2A>G" "r.spl" "p.?" "7i" "" "0001061060" "00010183" "90" "1139" "0" "1139" "0" "c.1139G>T" "r.(?)" "p.(Gly380Val)" "12" "" "0001061061" "00010183" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Gln228Ter)" "7" "" "0001061062" "00010183" "90" "2953" "0" "2953" "0" "c.2953C>T" "r.(?)" "p.(Gln985Ter)" "29" "" "0001061063" "00010183" "90" "727" "0" "727" "0" "c.727del" "r.(?)" "p.(Leu243PhefsTer136)" "7" "" "0001061064" "00010183" "90" "1520" "0" "1520" "0" "c.1520C>G" "r.(?)" "p.(Pro507Arg)" "15" "" "0001061089" "00010183" "90" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Arg)" "9" "" "0001061102" "00010183" "90" "2254" "0" "2254" "0" "c.2254C>G" "r.(?)" "p.(Leu752Val)" "22" "" "0001061103" "00010183" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Ala139Val)" "4" "" "0001061104" "00010183" "90" "1912" "0" "1912" "0" "c.1912dup" "r.(?)" "p.(Val638GlyfsTer23)" "19" "" "0001061105" "00010183" "90" "800" "0" "800" "0" "c.800G>A" "r.spl?" "p.(Gly267Glu)" "8" "" "0001061106" "00010183" "90" "855" "0" "855" "0" "c.855dup" "r.(?)" "p.(Val286ArgfsTer43)" "9" "" "0001061107" "00010183" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Pro176Ala)" "4" "" "0001061108" "00010183" "90" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Gly380Asp)" "12" "" "0001061109" "00010183" "90" "1742" "0" "1742" "0" "c.1742C>A" "r.(?)" "p.(Ala581Asp)" "17" "" "0001061110" "00010183" "90" "409" "-3" "418" "0" "c.409-3_418del" "r.(?)" "p.?" "3i_4" "" "0001061111" "00010183" "90" "2113" "0" "2113" "0" "c.2113T>C" "r.(?)" "p.(Cys705Arg)" "21" "" "0001061112" "00010183" "90" "2113" "0" "2113" "0" "c.2113T>C" "r.(?)" "p.(Cys705Arg)" "21" "" "0001061113" "00010183" "90" "2555" "0" "2555" "0" "c.2555del" "r.(?)" "p.(Gln852ArgfsTer58)" "25" "" "0001061114" "00010183" "90" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Arg977Ter)" "28" "" "0001061115" "00010183" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Ter)" "12" "" "0001061116" "00010183" "90" "1912" "0" "1912" "0" "c.1912dup" "r.(?)" "p.(Val638GlyfsTer23)" "19" "" "0001061117" "00010183" "90" "2113" "0" "2113" "0" "c.2113T>C" "r.(?)" "p.(Cys705Arg)" "21" "" "0001061118" "00010183" "90" "693" "0" "693" "0" "c.693dup" "r.(?)" "p.(Ala232CysfsTer24)" "7" "" "0001061121" "00010183" "50" "2264" "0" "2264" "0" "c.2264G>C" "r.(?)" "p.(Arg755Pro)" "22" "" "0001061122" "00010183" "50" "2930" "0" "2930" "0" "c.2930del" "r.(?)" "p.(Arg977GlnfsTer?)" "28" "" "0001061123" "00010183" "90" "1214" "0" "1214" "0" "c.1214T>C" "r.(?)" "p.(Ile405Thr)" "13" "" "0001061124" "00010183" "90" "2254" "0" "2254" "0" "c.2254C>G" "r.(?)" "p.(Leu752Val)" "22" "" "0001061125" "00010183" "90" "2264" "0" "2264" "0" "c.2264G>C" "r.(?)" "p.(Arg755Pro)" "22" "" "0001061135" "00010183" "90" "531" "0" "531" "0" "c.531T>A" "r.(?)" "p.(Cys177Ter)" "4" "" "0001061136" "00010183" "90" "917" "0" "917" "0" "c.917dup" "r.(?)" "p.(Arg307GlufsTer22)" "10" "" "0001061137" "00010183" "90" "1214" "0" "1214" "0" "c.1214T>C" "r.(?)" "p.(Ile405Thr)" "13" "" "0001061138" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.spl" "p.?" "14i" "" "0001061139" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.spl" "p.?" "14i" "" "0001061140" "00010183" "90" "1413" "0" "1413" "0" "c.1413C>G" "r.(?)" "p.(Tyr471Ter)" "14" "" "0001061141" "00010183" "90" "1563" "0" "1563" "0" "c.1563T>A" "r.(?)" "p.(Cys521Ter)" "16" "" "0001061142" "00010183" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Gln558Ter)" "17" "" "0001061143" "00010183" "90" "1879" "-2" "1879" "-2" "c.1879-2A>G" "r.spl" "p.?" "18i" "" "0001061144" "00010183" "90" "1878" "0" "1878" "0" "c.1878G>C" "r.spl" "p.?" "18" "" "0001061145" "00010183" "90" "1787" "0" "1787" "0" "c.1787T>C" "r.(?)" "p.(Ile596Thr)" "18" "" "0001061146" "00010183" "90" "2113" "0" "2113" "0" "c.2113T>C" "r.(?)" "p.(Cys705Arg)" "21" "" "0001061147" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Gln778Pro)" "23" "" "0001061148" "00010183" "90" "2748" "0" "2757" "0" "c.2748_2757del" "r.(?)" "p.(Thr917SerfsTer?)" "27" "" "0001061149" "00010183" "90" "2800" "0" "2800" "0" "c.2800G>T" "r.(?)" "p.(Val934Phe)" "27" "" "0001061150" "00010183" "90" "2870" "0" "2870" "0" "c.2870C>T" "r.(?)" "p.(Ser957Leu)" "28" "" "0001061151" "00010183" "90" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Arg977Ter)" "28" "" "0001061152" "00010183" "90" "2944" "0" "2944" "0" "c.2944G>A" "r.(?)" "p.(Val982Met)" "29" "" "0001061161" "00010183" "90" "1913" "0" "1913" "0" "c.1913dup" "r.(?)" "p.(Cys639MetfsTer22)" "19" "" "0001061162" "00010183" "50" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.spl" "p.?" "14i" "" "0001061163" "00010183" "50" "2800" "0" "2800" "0" "c.2800G>T" "r.(?)" "p.(Val934Phe)" "27" "" "0001061164" "00010183" "90" "3060" "2" "3060" "2" "c.3060+2T>C" "r.(2944_3060del)" "p.(Trp983_Val1021del)" "29i" "" "0001061165" "00010183" "30" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Ala989Thr)" "29" "" "0001061169" "00010183" "90" "2702" "0" "2702" "0" "c.2702C>A" "r.2702C>A" "p.Ser901Ter" "26" "" "0001061171" "00010183" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Ter)" "" "" "0001061173" "00010183" "90" "1946" "1" "1946" "1" "c.1946+1G>A" "r.spl" "p.?" "19i" "" "0001061174" "00010183" "90" "2944" "0" "2944" "0" "c.2944G>A" "r.2944G>A" "p.Val982Met" "29" "" "0001061175" "00010183" "30" "2965" "0" "2965" "0" "c.2965G>A" "r.2965G>A" "p.Ala989Thr" "29" "" "0001061176" "00010183" "10" "2965" "0" "2965" "0" "c.2965G>A" "-" "p.Ala989Thr" "29" "" "0001061177" "00010183" "90" "2944" "0" "2944" "0" "c.2944G>A" "-" "p.Val982Met" "29" "" "0001061178" "00010183" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Pro176Ala)" "" "" "0001061179" "00010183" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Pro176Ala)" "" "" "0001061180" "00010183" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Pro176Ala)" "" "" "0001061181" "00010183" "90" "1545" "-1" "1545" "-1" "c.1545-1del" "r.spl" "p.?" "15i" "" "0001061182" "00010183" "90" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Pro176Leu)" "" "" "0001061183" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.2333A>C" "p.Gln778Pro" "" "" "0001061184" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.2333A>C" "p.Gln778Pro" "" "" "0001061185" "00010183" "90" "1753" "-1" "1753" "-1" "c.1753-1G>A" "r.1753_1878del" "p.Asp585_Gln626" "17i" "" "0001061194" "00010183" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Val329Phe)" "" "" "0001061195" "00010183" "90" "1232" "0" "1232" "0" "c.1232dup" "r.(?)" "p.(Tyr411Ter)" "" "" "0001061196" "00010183" "90" "1214" "0" "1214" "0" "c.1214T>C" "r.(?)" "p.(Ile405Thr)" "" "" "0001061197" "00010183" "90" "2113" "0" "2113" "0" "c.2113T>C" "r.(?)" "p.(Cys705Arg)" "" "" "0001061198" "00010183" "90" "2113" "0" "2113" "0" "c.2113T>C" "r.(?)" "p.(Cys705Arg)" "" "" "0001061199" "00010183" "90" "624" "2" "624" "2" "c.624+2C>A" "r.[0,624_625ins[GA;624+3_625-1]]" "p.[0,Ala209GlufsTer72]" "5i" "" "0001061200" "00010183" "90" "2113" "0" "2113" "0" "c.2113T>C" "r.2113T>C" "p.Cys705Arg" "" "" "0001061201" "00010183" "90" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Glu355Lys)" "" "" "0001061202" "00010183" "90" "1787" "0" "1787" "0" "c.1787T>C" "r.(?)" "p.(Ile596Thr)" "" "" "0001061203" "00010183" "90" "1413" "0" "1413" "0" "c.1413C>A" "r.(?)" "p.(Tyr471Ter)" "" "" "0001061204" "00010183" "90" "3017" "0" "3017" "0" "c.3017dup" "r.(3017dup)" "p.(Gly1007Trpfs*Ter29)" "" "" "0001061213" "00010183" "10" "3063" "0" "3063" "0" "c.3063C>T" "r.3063C>T" "p.Val1021=" "30" "" "0001061214" "00010183" "10" "2621" "0" "2621" "0" "c.2621T>G" "r.2621T>G" "p.Ile874Ser" "26" "HPA-3" "0001061215" "00010183" "10" "2187" "35" "2187" "43" "c.2187+35_2187+43del" "r.2187_2188=" "p.=" "21i" "" "0001061216" "00010183" "10" "2188" "-7" "2188" "-7" "c.2188-7C>G" "r.2187_2188=" "p.=" "21i" "" "0001061217" "00010183" "10" "2187" "254" "2187" "254" "c.2187+254A>G" "r.2187_2188=" "p.=" "21i" "" "0001061225" "00010183" "50" "1949" "0" "1949" "0" "c.1949C>T" "r.(?)" "p.(Thr650Met)" "" "HPA-20;KNO" "0001061238" "00010183" "50" "2602" "0" "2602" "0" "c.2602G>A" "r.2602G>A" "p.Val868Met" "" "HPA-9;MAX" "0001061239" "00010183" "50" "2311" "0" "2311" "0" "c.2311G>T" "r.(?)" "p.(Val771Leu)" "" "HPA-28;WAR" "0001061240" "00010183" "50" "584" "0" "584" "0" "c.584A>C" "r.(?)" "p.(Lys195Thr)" "" "HPA-22" "0001061241" "00010183" "50" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Ser503Asn)" "" "HPA-24" "0001061242" "00010183" "50" "2614" "0" "2614" "0" "c.2614C>A" "r.(?)" "p.(Leu872Met)" "" "HPA-27" "0001061254" "00010183" "90" "575" "-1" "575" "0" "c.575-1_575insGGACAA" "r.574_575insGGACAA" "p.Phe191_Ser192insArgThr" "5" "KO" "0001061255" "00010183" "90" "575" "-1" "575" "0" "c.575-1_575insGGACAA" "-" "p.Phe191_Ser192insArgThr" "" "" "0001061257" "00010183" "90" "1544" "1" "1544" "1" "c.1544+1G>A" "r.1537_1544del" "p.Val513LeufsTer71" "15i" "" "0001061258" "00010183" "90" "1544" "1" "1544" "1" "c.1544+1G>A" "r.1537_1544del" "p.Val513LeufsTer71" "15i" "" "0001061261" "00010183" "90" "1544" "1" "1544" "1" "c.1544+1G>A" "r.(1537_1544del)" "p.(Val513LeufsTer71)" "15i" "" "0001061265" "00010183" "70" "2348" "5" "2348" "5" "c.2348+5G>C" "r.(2268_2348del,=)" "p.(Ser756_Gly783delInsArg,=)" "23i" "" "0001061266" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.(1440_1441del)" "p.(Arg480SerfsTer106)" "14i" "" "0001061267" "00010183" "70" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358His)" "12" "" "0001061269" "00010183" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Gln228Ter)" "7" "" "0001061270" "00010183" "70" "423" "0" "423" "0" "c.423G>T" "r.(?)" "p.(Trp141Cys)" "4" "" "0001061271" "00010183" "70" "2095" "-19" "2095" "-19" "c.2095-19T>A" "r.spl?" "p.?" "20i" "" "0001061272" "00010183" "70" "1201" "0" "1201" "0" "c.1201G>T" "r.(?)" "p.(Gly401Cys)" "12" "" "0001061273" "00010183" "90" "1544" "1" "1544" "1" "c.1544+1G>A" "r.(1537_1544del)" "p.(Val513LeufsTer71)" "15i" "" "0001061274" "00010183" "70" "2800" "0" "2800" "0" "c.2800G>T" "r.(?)" "p.(Val934Phe)" "27" "" "0001061275" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.(1440_1441del)" "p.(Arg480SerfsTer106)" "14i" "" "0001061276" "00010183" "70" "408" "11" "408" "11" "c.408+11C>A" "r.spl?" "p.?" "3i" "" "0001061278" "00010183" "90" "1544" "1" "1544" "1" "c.1544+1G>A" "r.(1537_1544del)" "p.(Val513LeufsTer71)" "15i" "" "0001061279" "00010183" "90" "1413" "0" "1413" "0" "c.1413C>G" "r.(?)" "p.(Tyr471Ter)" "14" "" "0001061280" "00010183" "70" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358His)" "12" "" "0001061281" "00010183" "90" "1413" "0" "1413" "0" "c.1413C>G" "r.(?)" "p.(Tyr471Ter)" "14" "" "0001061282" "00010183" "90" "311" "-1" "1210" "1" "c.(310+1_311-1)_(1210+1_1211-1)dup" "r.?" "p.?" "2i_12i" "" "0001061284" "00010183" "90" "1771" "0" "1771" "0" "c.1771dup" "r.(?)" "p.(Asp591GlyfsTer47)" "18" "" "0001061286" "00010183" "50" "1553" "0" "1553" "0" "c.1553T>A" "r.(?)" "p.(Ile518Asn)" "16" "" "0001061288" "00010183" "70" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Gly44Val)" "1" "" "0001061290" "00010183" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Ter)" "19" "" "0001061291" "00010183" "50" "857" "0" "857" "0" "c.857T>A" "r.(?)" "p.(Val286Asp)" "9" "" "0001061292" "00010183" "90" "91" "0" "91" "0" "c.91del" "r.(?)" "p.(Ala31ProfsTer2)" "1" "" "0001061293" "00010183" "90" "2148" "0" "2148" "0" "c.2148dup" "r.(?)" "p.(Leu717AlafsTer3)" "21" "" "0001061295" "00010183" "90" "1357" "0" "1357" "0" "c.1357C>T" "r.(?)" "p.(Arg453Ter)" "13" "" "0001061296" "00010183" "90" "551" "0" "626" "0" "c.551_626del" "p.Arg184_Gln208del" "p.(Arg184ProfsTer15)" "4" "" "0001061297" "00010183" "90" "832" "0" "832" "0" "c.832del" "r.(?)" "p.(Asp278IlefsTer101)" "8" "" "0001061299" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.(1440_1441del)" "p.(Arg480SerfsTer106)" "14i" "" "0001061302" "00010183" "70" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Ser)" "5" "" "0001061305" "00010183" "70" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Ala216Val)" "6" "" "0001061306" "00010183" "70" "571" "0" "571" "0" "c.571T>G" "r.(571_574del,571T>G)" "p.(Phe191AlafsTer32,Phe191Val)" "4" "" "0001061307" "00010183" "70" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Ser)" "5" "" "0001061311" "00010183" "70" "257" "0" "257" "0" "c.257T>C" "r.(?)" "p.(Leu86Pro)" "2" "" "0001061312" "00010183" "90" "574" "1" "574" "1" "c.574+1G>A" "r.spl" "p.?" "4i" "" "0001061313" "00010183" "90" "1879" "-2" "1879" "-2" "c.1879-2A>G" "r.spl" "p.?" "18i" "" "0001061314" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.(1440_1441del)" "p.(Arg480SerfsTer106)" "14i" "" "0001061315" "00010183" "90" "1413" "0" "1413" "0" "c.1413C>G" "r.(?)" "p.(Tyr471Ter)" "14" "" "0001061316" "00010183" "70" "1878" "0" "1878" "0" "c.1878G>C" "r.(1753_1878del,1878G>C)" "p.(Asp585_Gln626del,Gln626His)" "18" "" "0001061318" "00010183" "70" "2951" "0" "2951" "0" "c.2951C>A" "r.(?)" "p.(Thr984Lys)" "29" "" "0001061320" "00010183" "50" "1214" "0" "1214" "0" "c.1214T>C" "r.(?)" "p.(Ile405Thr)" "13" "" "0001061321" "00010183" "50" "" "0" "" "0" "c.*165T>C" "r.(?)" "p.?" "30" "" "0001061322" "00010183" "90" "2421" "0" "2421" "0" "c.2421G>A" "r.(?)" "p.(Trp807Ter)" "24" "" "0001061325" "00010183" "70" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Gly44Val)" "1" "" "0001061326" "00010183" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Ter)" "19" "" "0001061327" "00010183" "90" "91" "0" "91" "0" "c.91del" "r.(?)" "p.(Ala31ProfsTer2)" "1" "" "0001061329" "00010183" "70" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Gly44Val)" "1" "" "0001061334" "00010183" "70" "3077" "0" "3077" "0" "c.3077G>A" "r.(?)" "p.(Arg1026Gln)" "30" "" "0001061335" "00010183" "70" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Arg)" "13" "" "0001061336" "00010183" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Ter)" "17" "" "0001061337" "00010183" "90" "2902" "0" "2902" "0" "c.2902del" "r.(?)" "p.(Tyr968MetfsTer?)" "28" "" "0001061338" "00010183" "90" "2770" "0" "2770" "0" "c.2770C>T" "r.(?)" "p.(Gln924Ter)" "27" "" "0001061339" "00010183" "70" "2800" "0" "2800" "0" "c.2800G>T" "r.(?)" "p.(Val934Phe)" "27" "" "0001061340" "00010183" "70" "2864" "0" "2864" "0" "c.2864T>A" "r.(?)" "p.(Leu955Gln)" "28" "" "0001061341" "00010183" "70" "1259" "0" "1259" "0" "c.1259T>C" "r.(?)" "p.(Val420Ala)" "13" "" "0001061342" "00010183" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Ter)" "19" "" "0001061343" "00010183" "70" "2468" "0" "2468" "0" "c.2468G>A" "r.(?)" "p.(Gly823Glu)" "25" "" "0001061344" "00010183" "90" "3061" "-1" "3061" "-1" "c.3061-1G>A" "r.spl" "p.?" "29i" "" "0001061346" "00010183" "90" "1946" "3" "1946" "3" "c.1946+3G>T" "r.spl" "p.?" "19i" "" "0001061348" "00010183" "70" "2264" "0" "2264" "0" "c.2264G>A" "r.(?)" "p.(Arg755Gln)" "22" "" "0001061349" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.(1440_1441del)" "p.(Arg480SerfsTer106)" "14i" "" "0001061351" "00010183" "90" "2915" "0" "2915" "0" "c.2915dup" "r.(?)" "p.(Leu973AlafsTer63)" "28" "" "0001061353" "00010183" "90" "575" "-1" "670" "1" "c.(574+1_575-1)_(670+1_671-1)del" "r.?" "p.?" "4i_6i" "" "0001061355" "00010183" "70" "2113" "0" "2113" "0" "c.2113T>C" "r.(?)" "p.(Cys705Arg)" "21" "" "0001061359" "00010183" "70" "961" "0" "961" "0" "c.961G>T" "r.(?)" "p.(Gly321Trp)" "11" "" "0001061360" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.(1440_1441del)" "p.(Arg480SerfsTer106)" "14i" "" "0001061361" "00010183" "90" "1946" "3" "1946" "3" "c.1946+3G>T" "r.spl" "p.?" "19i" "" "0001061362" "00010183" "90" "1618" "0" "1618" "0" "c.1618C>T" "r.(?)" "p.(Gln540Ter)" "17" "" "0001061363" "00010183" "90" "2268" "-1" "3060" "1" "c.(2267+1_2268-1)_(3060+1_3061-1)del" "r.?" "p.?" "22i_29i" "" "0001061364" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.(1440_1441del)" "p.(Arg480SerfsTer106)" "14i" "" "0001061367" "00010183" "70" "2264" "0" "2264" "0" "c.2264G>A" "r.(?)" "p.(Arg755Gln)" "22" "" "0001061368" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.(1440_1441del)" "p.(Arg480SerfsTer106)" "14i" "" "0001061369" "00010183" "90" "1440" "-13" "1440" "-1" "c.1440-13_1440-1del" "r.(1440_1441del)" "p.(Arg480SerfsTer106)" "14i" "" "0001061370" "00010183" "90" "2915" "0" "2915" "0" "c.2915dup" "r.(?)" "p.(Leu973AlafsTer63)" "28" "" "0001061372" "00010183" "90" "601" "0" "601" "0" "c.601G>A" "-" "p.Gly201Ser" "" "" "0001061373" "00010183" "90" "602" "0" "602" "0" "c.602G>C" "-" "p.Gly201Ala" "" "" "0001061374" "00010183" "10" "599" "0" "599" "0" "c.599C>T" "-" "p.Ala200Val" "" "" "0001061375" "00010183" "70" "2333" "0" "2333" "0" "c.2333A>C" "-" "p.Gln778Pro" "" "" "0001061376" "00010183" "70" "2330" "0" "2330" "0" "c.2330C>A" "-" "p.Ala777Asp" "" "" "0001061417" "00010183" "30" "3063" "0" "3063" "0" "c.3063C>T" "r.(3063C>T)" "p.(Val1021=)" "" "" "0001061418" "00010183" "30" "2621" "0" "2621" "0" "c.2621T>G" "r.(?)" "p.(Ile874Ser)" "" "HPA-3" "0001061419" "00010183" "30" "2187" "35" "2187" "43" "c.2187+35_2187+43del" "r.(=)" "p.(=)" "21i" "" "0001061425" "00010183" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Ter)" "12" "" "0001061426" "00010183" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Ter)" "17" "" "0001061427" "00010183" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Ter)" "17" "" "0001061428" "00010183" "90" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" "p.(Gln891Ter)" "26" "" "0001061429" "00010183" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Ter)" "17" "" "0001061430" "00010183" "70" "812" "0" "812" "0" "c.812C>G" "r.(?)" "p.(Ala271Gly)" "8" "" "0001061431" "00010183" "70" "1652" "0" "1652" "0" "c.1652G>A" "r.(?)" "p.(Arg551Gln)" "17" "" "0001061432" "00010183" "70" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Arg551Trp)" "17" "" "0001061433" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Gln778Pro)" "23" "" "0001061434" "00010183" "90" "2236" "0" "2236" "0" "c.2236G>T" "r.(?)" "p.(Glu746Ter)" "22" "" "0001061436" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Gln778Pro)" "23" "" "0001061437" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Gln778Pro)" "23" "" "0001061440" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Gln778Pro)" "23" "" "0001061441" "00010183" "90" "799" "2" "799" "2" "c.799+2T>C" "r.spl" "p.?" "7i" "" "0001061442" "00010183" "90" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" "p.(Gln891Ter)" "26" "" "0001061443" "00010183" "90" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" "p.(Gln891Ter)" "26" "" "0001061444" "00010183" "70" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Arg)" "13" "" "0001061445" "00010183" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Ter)" "19" "" "0001061446" "00010183" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Ter)" "19" "" "0001061447" "00010183" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Ter)" "17" "" "0001061449" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Gln778Pro)" "23" "" "0001061451" "00010183" "50" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" "p.(Gln891Ter)" "26" "" "0001061452" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Gln778Pro)" "23" "" "0001061454" "00010183" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Ter)" "17" "" "0001061455" "00010183" "70" "2330" "0" "2330" "0" "c.2330C>A" "r.(?)" "p.(Ala777Asp)" "23" "" "0001061456" "00010183" "70" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ala341Val)" "12" "" "0001061457" "00010183" "70" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Arg)" "9" "" "0001061459" "00010183" "90" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Trp144Ter)" "4" "" "0001061460" "00010183" "90" "625" "-1" "625" "-1" "c.625-1G>A" "r.spl" "p.?" "5i" "" "0001061462" "00010183" "90" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Gln665Ter)" "20" "" "0001061463" "00010183" "90" "2613" "0" "2613" "0" "c.2613del" "r.(?)" "p.(Leu872CysfsTer38)" "26" "" "0001061464" "00010183" "70" "2570" "0" "2570" "0" "c.2570G>T" "r.(?)" "p.(Cys857Phe)" "25" "" "0001061465" "00010183" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Ter)" "17" "" "0001061468" "00010183" "70" "2029" "0" "2029" "0" "c.2029G>A" "r.(?)" "p.(Glu677Lys)" "20" "" "0001061469" "00010183" "70" "2159" "0" "2159" "0" "c.2159T>C" "r.(?)" "p.(Leu720Pro)" "21" "" "0001061470" "00010183" "70" "2172" "0" "2172" "0" "c.2172G>A" "r.(?)" "p.(Met724Ile)" "21" "" "0001061471" "00010183" "90" "2236" "0" "2236" "0" "c.2236G>T" "r.(?)" "p.(Glu746Ter)" "22" "" "0001061475" "00010183" "90" "2267" "1" "2267" "1" "c.2267+1G>T" "r.spl" "p.?" "22i" "" "0001061476" "00010183" "90" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" "p.(Gln891Ter)" "26" "" "0001061478" "00010183" "90" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Ter)" "17" "" "0001061479" "00010183" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Gln778Pro)" "23" "" "0001061481" "00010183" "50" "2602" "-3" "2602" "-3" "c.2602-3C>G" "r.spl" "p.?" "25i" "" "0001061483" "00010183" "90" "460" "0" "462" "0" "c.460_462del" "r.(?)" "p.(Glu154del)" "4" "" "0001061484" "00010183" "70" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Tyr220Cys)" "6" "" "0001061486" "00010183" "70" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590Gln)" "18" "" "0001061487" "00010183" "70" "962" "0" "962" "0" "c.962G>T" "r.(?)" "p.(Gly321Val)" "11" "" "0001061502" "00010183" "70" "1028" "0" "1028" "0" "c.1028T>C" "r.(?)" "p.(Leu343Pro)" "" "" "0001061505" "00010183" "90" "641" "0" "641" "0" "c.641T>C" "r.(?)" "p.(Leu214Pro)" "" "" "0001061506" "00010183" "50" "188" "8" "188" "8" "c.188+8del" "r.spl?" "p.?" "" "" "0001061507" "00010183" "90" "1753" "-1" "1753" "-1" "c.1753-1G>A" "r.spl" "p.?" "" "" "0001061508" "00010183" "90" "2915" "0" "2915" "0" "c.2915dup" "r.(?)" "p.(Leu973AlafsTer63)" "" "" "0001061509" "00010183" "70" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Gly313Arg)" "" "" "0001061511" "00010183" "90" "1424" "0" "1427" "0" "c.1424_1427dup" "r.(?)" "p.(Ala477GlyfsTer111)" "" "" "0001061512" "00010183" "90" "800" "-2" "800" "-2" "c.800-2A>T" "r.spl" "p.?" "" "" "0001061514" "00010183" "90" "641" "0" "641" "0" "c.641T>C" "r.(?)" "p.(Leu214Pro)" "" "" "0001061519" "00010183" "90" "1919" "0" "1920" "0" "c.1919_1920del" "r.(?)" "p.(Val640AlafsTer20)" "" "" "0001061520" "00010183" "90" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Arg)" "" "" "0001061521" "00010183" "90" "2338" "0" "2338" "0" "c.2338del" "r.(?)" "p.(Glu780SerfsTer46)" "" "" "0001061524" "00010183" "90" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358His)" "" "" "0001061525" "00010183" "90" "3115" "0" "3119" "0" "c.3115_3119dup" "r.(?)" "p.(Ter1040TrpextTer?)" "" "" "0001061527" "00010183" "70" "1028" "0" "1028" "0" "c.1028T>C" "r.(?)" "p.(Leu343Pro)" "" "" "0001061528" "00010183" "70" "1028" "0" "1028" "0" "c.1028T>C" "r.(?)" "p.(Leu343Pro)" "" "" "0001061530" "00010183" "50" "559" "0" "559" "0" "c.559del" "r.(?)" "p.(Val187TrpfsTer37)" "" "" "0001061531" "00010183" "90" "1919" "0" "1920" "0" "c.1919_1920del" "r.(?)" "p.(Val640AlafsTer20)" "" "" "0001061532" "00010183" "90" "641" "0" "641" "0" "c.641T>C" "r.(?)" "p.(Leu214Pro)" "" "" "0001061533" "00010183" "70" "1028" "0" "1028" "0" "c.1028T>C" "r.(?)" "p.(Leu343Pro)" "" "" "0001061534" "00010183" "90" "2673" "0" "2674" "0" "c.2673_2674dup" "r.(?)" "p.(Ile892ArgfsTer19)" "" "" "0001061537" "00010183" "70" "1028" "0" "1028" "0" "c.1028T>C" "r.(?)" "p.(Leu343Pro)" "" "" "0001061538" "00010183" "70" "1210" "4" "1210" "4" "c.1210+4A>G" "r.spl?" "p.?" "" "" "0001061540" "00010183" "90" "1424" "0" "1427" "0" "c.1424_1427dup" "r.(?)" "p.(Ala477GlyfsTer111)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 247 "{{screeningid}}" "{{variantid}}" "0000472441" "0001061043" "0000472442" "0001061044" "0000472443" "0001061045" "0000472449" "0001061052" "0000472450" "0001061053" "0000472451" "0001061054" "0000472452" "0001061055" "0000472453" "0001061056" "0000472454" "0001061057" "0000472455" "0001061058" "0000472456" "0001061059" "0000472457" "0001061060" "0000472458" "0001061061" "0000472458" "0001061089" "0000472459" "0001061062" "0000472460" "0001061063" "0000472461" "0001061064" "0000472494" "0001061102" "0000472494" "0001061121" "0000472495" "0001061103" "0000472496" "0001061104" "0000472497" "0001061105" "0000472497" "0001061122" "0000472498" "0001061106" "0000472499" "0001061107" "0000472499" "0001061123" "0000472500" "0001061108" "0000472500" "0001061124" "0000472500" "0001061125" "0000472501" "0001061109" "0000472502" "0001061110" "0000472503" "0001061111" "0000472504" "0001061112" "0000472505" "0001061113" "0000472506" "0001061114" "0000472507" "0001061115" "0000472508" "0001061116" "0000472509" "0001061117" "0000472510" "0001061118" "0000472516" "0001061135" "0000472517" "0001061136" "0000472517" "0001061161" "0000472518" "0001061137" "0000472518" "0001061162" "0000472519" "0001061138" "0000472520" "0001061139" "0000472521" "0001061140" "0000472521" "0001061163" "0000472522" "0001061141" "0000472523" "0001061142" "0000472524" "0001061143" "0000472525" "0001061144" "0000472526" "0001061145" "0000472527" "0001061146" "0000472527" "0001061164" "0000472528" "0001061147" "0000472529" "0001061148" "0000472530" "0001061149" "0000472531" "0001061150" "0000472532" "0001061151" "0000472533" "0001061152" "0000472533" "0001061165" "0000472543" "0001061169" "0000472545" "0001061171" "0000472547" "0001061173" "0000472547" "0001061174" "0000472547" "0001061175" "0000472548" "0001061178" "0000472549" "0001061179" "0000472550" "0001061180" "0000472551" "0001061181" 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